Genetics 22.pdf

What is a cardiolipid ? A glycero-phospholipid or phosphoglycerides Phosphoglyceride is 1 2 FA-chain and phosphate...

What is a cardiolipid ? A glycero-phospholipid or phosphoglycerides Phosphoglyceride is 1 2 FA-chain and phosphate glycerol , oligomyosin ihibits ATP Synthase GABAA increase intracellular consentration of Chloride Tons If ATP-sensitive potassium channel inhibited > - Stimulation of insulin Secretion Secondary message of beta adreneric receptor is CAMP Gq Noradrenalin signalling PK POMC is producing beta-endorphin Acetyl-CoA > - Nicotinic receptor > - Nat & Pheochromocytoma is a tumor in where Noradrenalin and adrenalin is produced - this will elevate nor metanephrine Pyruvate Glycolysis , Produced in the same reaction that produce ATP Glyceraldehyde 3- p Enters the reaction of glycolysis NADH , is produced 1, 3 bis phosphoglycerate Enters glycolysis , ATP is produced Glucose-6-P Key regulatory enzyme of glycolysis Glycerol-3-p Interconnects lipolysis and gluconeogenesis A 4.5-year-old boy was referred to the genetic clinic with short stature and abnormal teeth development by an endocrinologist. The overall epediatric documentation revealed that she was born with a neonatal left clavicle fracture, had a bilateral femur fracture at 5 months of age, a right parieto-temporal bone fracture at 10 months of age, and a right tibia fracture at 2 years of age. Her pediatrician confirmed hypoplastic with an adequate postnatal adaptation and a psychomotor development without abnormality. The boy's mother had the same problems with teeth and growth, as did her mother and her grandmother. In contrast, the mother's brother (the boy's uncle) and the mother's second son (the boy's brother) were of average height and had both deciduous and permanent teeth without pathologies. The mother's pediatric documentation revealed that she was born with a neonatal left clavicle fracture, had a bilateral femur fracture at 5 months of age, a right parieto- temporal bone fracture at 10 months of age, and a right tibia fracture at 2 years of age. Her pediatrician confirmed hypoplastic tooth enamel and made a prognosis of increased bone fragility. - a) Hypermineralized - b) Hypomineralized - c) Hypoplastic - d) Hyperplastic 2. The pediatrician made a prognosis regarding the mother's condition that involved: - a) Increased tooth brittleness - b) Decreased bone density - c) Increased bone fragility - d) Decreased bone flexibility 3. Molecular genetic testing confirmed the diagnosis of which disease? - a) Marfan syndrome - b) Ehlers-Danlos syndrome - c) Brittle bone disease - d) Osteogenesis imperfecta 4. The type of inheritance for this genetic condition was: - a) Autosomal recessive - b) X-linked dominant - c) Autosomal dominant - d) X-linked recessive 5. The boy and his mother were found to be what for the mutation in the COL1A2 gene? - a) Homozygous - b) Hemizygous - c) Heterozygous  - d) Compound heterozygous 6. The mutation caused a change involving: - a) Deletion of glycine - b) Substitution of glycine by alanine - c) Substitution of glycine by serine - d) Insertion of serine by glycine 7. This mutation affected which protein in the body? - a) Elastin - b) Collagen - c) Keratin - d) Actin --- ↑ ### Answers: 1. Hypoplastic 2. Increased bone fragility 3. Osteogenesis imperfecta 4. Autosomal dominant 5. Heterozygous 6. Substitution 7. Collagen ### Multiple Choice Quiz 1. The most common classic type of hereditary disorder, in which there is a high level of phenylalanine in the blood, is called: - a) Tyrosinemia - b) Alkaptonuria - c) Maple syrup urine disease - d) Phenylketonuria 2. The cause of this disorder is a mutation in the gene encoding: - a) Tyrosinase - b) Dihydropteridine reductase - c) Phenylalanin hydroxylase - d) Homogentisate dioxygenase 3. This enzyme converts phenylalanine into: - a) Tryptophan - b) Serine - c) Tyrosine - d) Leucine 4. The heredity of this disease is: - a) Autosomal dominant - b) X-linked recessive - c) Autosomal recessive - d) Mitochondrial 5. The most prominent symptoms of this disease, if a treatment is not started immediately after the birth, are: - a) Hyperactivity - b) Skin rashes - c) Mental retardation - d) Hypoglycemia 6. [Blank] afflicted by this disease often occur in the population: - a) Homozygotes - b) Heterozygotes - c) Compound heterozygotes - d) Hemizygotes 7. The frequency of this disease in the Czech Republic is 1: 6200, thus the frequency of heterozygotes for this disease is: - a) 0.0150 (approximately every 60th) - b) 0.0250 (approximately every 40th) - c) 0.0350 (approximately every 30th) - d) 0.0450 (approximately every 20th) --- & ### Answers: 1. Phenylketonuria 2. Phenylalanin hydroxylase 3. Tyrosine 4. Autosomal recessive  & 5. Mental retardation 6. Compound heterozygotes 7. 0.0250 (approximately every 40th) ### Multiple Choice Quiz 1. There is a group of diseases caused by increased tandem repetition of a certain nucleotide sequence, usually two, three, four nucleotides. Such a change belongs to the gene variants (polymorphisms) called: - a) Minisatellites - b) Classical satellites - c) Microsatellites - d) Macrosatellites 2. The type of mutation caused by the increased repetition of a certain nucleotide sequence is called a: - a) Static mutation - b) Dynamic mutation - c) Frame shift mutation - d) Insertion mutation 3. Because the amplification of a nucleotide sequence arises: - a) Suddenly - b) Randomly - c) Gradually - d) Directly 4. Diseases caused by this type of mutation include: - a) Huntington disease - b) Marfan syndrome - c) Down syndrome - d) Martin-Bell syndrome * 5. In Martin-Bell syndrome, the cytogenetic abnormality is: - a) Duplication at the end of the short arms of the X chromosome - b) Deletion at the end of the long arms of the Y chromosome - c) Fragility at the end of the long arms of the X chromosome - d) Deletion at the end of the X chromosome 6. The abnormality is located in the: - a) Exon - b) Intron - c) Promoter - d) 3' untranslated region 7. If the number of CGG triplet repeats exceeds 200 for that syndrome, it is a so-called: - a) Partial mutation - b) Full mutation - c) Half mutation - d) Incomplete mutation 8. This results in: - a) Transcription arrest - b) Increased transcription  - c) Translation arrest - d) Reduced transcription 9. Another syndrome caused by this type of mutation is: - a) Martin-Bell syndrome - b) Cystic fibrosis - c) Huntington disease - d) Hemophilia 10. In Huntington disease, amplification of the triplet is located in the: - a) Promoter - b) Exon - c) Intron - d) 3' untranslated region 11. This results in the: - a) Production of an abnormal protein - b) Degradation of normal protein - c) Enhanced protein production - d) Normal protein production 12. Another type of variant that consists in tandem repetition of 6 -100pb longer segments, located in telomeres and subtelomeric regions of chromosomes is called: - a) Minisatellites - b) Microsatellites - c) Classical satellites - d) Macrosatellites 13. Tandem repeats of very long nucleotide segments, so-called: - a) Classical satellites - b) Minisatellites - c) Microsatellites - d) Macrosatellites 14. Occur in the centromere region and in heterochromatin blocks. Variability in this area is: - a) With phenotypic effect - b) Without phenotypic effect - c) Indeterminate - d) Variable --- ### Answers: & 1. Microsatellites 2. Dynamic mutation 3. Gradually 4. Martin-Bell syndrome 5. Fragility at the end of the long arms of the X chromosome 6. Promoter 7. Full mutation 8. Transcription arrest 9. Huntington disease 10. Exon 11. Production of an abnormal protein  & 12. Minisatellites 13. Classical satellites 14. Without phenotypic effect ### Multiple Choice Quiz An afflicted man from Slovakia, who is on a strict protein-free diet, suffers from ochronosis (connective tissue pigmentation). His urine is brown, black in color due to the presence of homogentisic acid. Other members of his family are healthy. 1. The disease that this man suffers from is called: - a) Phenylketonuria - b) Cystic fibrosis - c) Alkaptonuria - d) Huntington disease 2. The inheritance of this disease is: - a) Autosomal dominant - b) X-linked recessive - c) Autosomal recessive - d) Mitochondrial 3. The frequency of heterozygotes for this disease in the Slovak population is: - a) 0.01042 (approximately every 95) - b) 0.01234 (approximately every 81) - c) 0.01478 (approximately every 68) - d) 0.01667 (approximately every 60) 4. The risk that the sister of the afflicted man is heterozygous is: - a) 1/2 = 0.5 - b) 2/3 = 0.6666 - c) 3/4 = 0.75 - d) 4/5 = 0.8 5. The risk that her child will be afflicted is: - a) 0.0012 - b) 0.0020 - c) 0.0024 - d) 0.0030 --- ↑ ### Answers: 1. Alkaptonuria 2. Autosomal recessive 3. 0.01478 (approximately every 68) 4. 2/3 = 0.6666 5. 0.0024 ### Multiple Choice Quiz Alice became pregnant after two previous spontaneous abortions. She and her husband John decided to have an amniocentesis due to increased parental age. [] analysis of amniotic cells showed the karyotype 46,XY,der(21;21)(q10;q10),+21. The chromosomal analysis of both partners revealed that Alice has the karyotype 45,XX,der(21;21)(q10;q10). John’s chromosomes were normal. The karyotype of the fetus represents [] form of [], which causes [] syndrome. The karyotype of Alice represents [] form of [] translocation. This type of aberration arises by centric fusion of the long arms of acrocentric chromosomes or as an izochromosome. When the mother is a carrier of this balanced form of aberration, the risk of having a child with an unbalanced form of aberration is []. The carrier of such a balanced homologous aberration produces [] types of gametes, while a carrier of a balanced non- homologous aberration of this type produces [] types of gametes, of which [] are viable. 1. The type of analysis performed on the amniotic cells is: - a) Prenatal - b) Postnatal - c) Neonatal - d) Genetic 2. The karyotype of the fetus represents: - a) Balanced - b) Unbalanced - c) Normal - d) Monosomy 3. The karyotype of the fetus represents the unbalanced form of:  - a) Robertsonian translocation - b) Isochromosome - c) Deletion - d) Inversion 4. The karyotype of the fetus indicates: - a) Down - b) Turner syndrome - c) Klinefelter syndrome - d) Patau syndrome 5. The karyotype of Alice represents the: - a) Balanced form of homologous Robertsonian translocation - b) Unbalanced form of non-homologous Robertsonian translocation - c) Balanced form of non-homologous Robertsonian translocation - d) Unbalanced form of homologous Robertsonian translocation 6. This type of aberration arises by centric fusion of the long arms of acrocentric chromosomes or as: - a) Isochromosome - b) Duplication - c) Deletion - d) Inversion 7. When the mother is a carrier of a balanced form of aberration, the risk of having a baby with an unbalanced aberration is: - a) 100% - b) 50% - c) 75% - d) 25% 8. The carrier of a balanced homologous aberration produces: - a) Two types of gametes during meiosis - b) Four types of gametes during meiosis - c) Six types of gametes during meiosis - d) Eight types of gametes during meiosis 9. The carrier of a balanced non-homologous aberration of this type produces:  - a) Six types of gametes, three of which are not viable - b) Four types of gametes, two of which are not viable - c) Two types of gametes, one of which is not viable - d) Eight types of gametes, four of which are not viable --- ### Answers: 1. Prenatal & 2. Unbalanced 3. Robertsonian translocation 4. Down 5. Balanced form of homologous Robertsonian translocation 6. Isochromosome 7. 100% 8. Two 9. Six **Question 1:** The most common type of __________ is caused by the absence or dysfunction of the enzyme 21-hydroxylase. A) Congenital adrenal hypoplasia B) Congenital adrenal hyperplasia C) Androgen insensitivity syndrome D) Turner syndrome --- **Question 2:** The heredity of this condition is __________. A) Autosomal dominant B) Autosomal recessive C) X-linked dominant D) Y-linked --- **Question 3:** If the patient receives appropriate treatment, he can live the rest of his life as a __________. A) Fertile woman or sterile man B) Fertile man or sterile woman C) Sterile woman or fertile man D) Sterile man or fertile woman --- **Question 4:** _________ is a disorder of any stage of androgen binding to the receptor or mutation of the receptor gene for androgen. A) Complete androgen insensitivity syndrome B) Congenital adrenal hyperplasia C) Turner syndrome D) Klinefelter syndrome --- **Question 5:** It is an __________ disease and manifests in the female phenotype with the male genotype. A) Autosomal dominant B) Autosomal recessive C) X-linked D) Y-linked --- **Question 6:** The female phenotype with genotype 46, XY, which belongs to a group of disorders called __________, can also be caused by a mutation or deletion of the SRY gene. A) Sex reversal B) Turner syndrome C) Klinefelter syndrome D) Androgen insensitivity syndrome --- **Question 7:** A mutation or deletion of the __________ gene, which is __________, is also associated with disorders in the same category. A) DAX1, X-linked B) SOX9, autosomal C) SRY, autosomal D) TP53, autosomal --- **Question 8:** This group also includes a disorder with genotype 46, XY, with a properly functioning testes determining factor, but due to __________ and its product, patients develop a female gender. A) DAX1 gene duplication B) SRY gene mutation C) SOX9 gene deletion D) Androgen receptor mutation --- **Question 9:** When a mutation in this gene occurs, patients develop a condition called __________. A) Congenital adrenal hypoplasia B) Complete androgen insensitivity syndrome C) Turner syndrome D) Klinefelter syndrome --- **Answers:** ↑ 1. B) Congenital adrenal hyperplasia 2. B) Autosomal recessive 3. A) Fertile woman or sterile man 4. A) Complete androgen insensitivity syndrome 5. C) X-linked 6. A) Sex reversal 7. B) SOX9, autosomal 8. A) DAX1 gene duplication 9. A) Congenital adrenal hypoplasia Here are the 16 multiple-choice questions with the correct answers (without the marks): 1. **What is CRISPR an essential component of?** a) Gene replication b) CRISPR-Cas9 technology c) DNA transcription d) RNA interference 2. **The original CRISPR system comes from which organism?** a) Eukaryotes b) Viruses c) Bacteria d) Fungi 3. **What does the CRISPR system represent in the organism?** a) Immune system response b) Viral replication system c) Antiviral defense d) Bacterial reproduction method 4. **What are the "spacer" sequences in CRISPR?** a) Random DNA sequences b) Remnants of previous viral infections c) Unused gene sequences d) Non-functional RNA sequences 5. **Which mechanism is similar to CRISPR in eukaryotic cells?**  a) RNA-interference b) Gene splicing c) DNA repair d) RNA editing 6. **When was the first CRISPR-based method capable of modifying the genome of mouse and human cells published?** a) January 2010 b) January 2011 c) January 2013 d) January 2015 7. **What are CRISPR spacer sequences transcribed into?** & a) Long DNA sequences b) Short RNA sequences c) Circular RNA d) Protein sequences 8. **Once the target site is found, what does the Cas9 enzyme do?** a) Cuts both strands of RNA b) Binds to DNA and cuts both strands c) Removes a gene segment d) Repairs damaged DNA 9. **What is the result of erroneous repair after Cas9 cuts the DNA strands?** a) Gene expression is turned on b) Target gene is activated  c) Target gene is turned off d) Gene replication increases 10. **What has been developed to modify CRISPR-Cas9 systems?** a) Different CRISPR sequences b) Different Cas enzymes c) Different RNA polymerases d) Different gene transcription factors 11. **What can modified CRISPR-Cas9 systems be used to treat?** a) Viral infections b) Gene mutations c) Bacterial diseases d) Autoimmune disorders 12. **What types of model organisms can be prepared using CRISPR-Cas9 technology?** a) Gene transfer models b) RNA-splicing models c) Knock-in and knock-out models d) Hybrid genome models 13. **What natural mechanisms do CRISPR-Cas9 systems use in eukaryotic cells?** a) Genetic recombination and mutation repair b) NHEJ and HDR c) DNA sequencing and RNA editing d) Transcription and translation 14. 15.CRISPR-Cas13b targets ________ editing. A. DNA B. RNA C. Protein D. Lipid 15. **What was the target of the first human CRISPR gene therapy performed in vivo?** a) Leber congenital amaurosis 10 b) Sickle cell anemia c) Cystic fibrosis d) Hemophilia A 16. **What was the goal of the therapy targeting the IVS26 mutation in the CEP290 gene?** a) To inhibit the mutation's progression b) To restore immune function c) To adjust the sequence and restore vision d) To prevent viral replication Correct Answers: 1. C. Genome & 2. B. Bacteria 3. C. Antiviral defense 4. A. Remnants of previous viral infections 5. C. RNA interference 6. C. Human and mouse  7. B. Short RNA ↑ 8. B. Enzyme 9. B. Cuts 10. C. Turn off 11. B. Cas enzymes 12. C. Gene mutations 13. A. Knock-in and knock-out 1. C. NHEJ and HDR 15. a) Leber congenital amaurosis 10 16. c) To adjust the sequence and restore vision Here is the complete multiple-choice quiz including all relevant details from the text: ### Multiple Choice Quiz The boy was born from his first uncomplicated pregnancy. His parents were healthy, and his maternal grandmother died at 65 of a stroke. The boy's psychomotor development was normal in infancy. He was easily tired from toddler age; muscular weakness progressed at preschool age. At the age of 5, he was sent to an endocrinology clinic (height 102 cm, weight 14 kg). The tests excluded impaired growth hormone secretion, celiac disease, and cystic fibrosis. Cardiac tests revealed no heart defect. At 8 years, abdominal pain and vomiting arose. EMG tests showed signs of a myogenic lesion. Histochemical techniques of the muscle biopsy showed an image of ragged red fibers. Examination in cultured fibroblasts showed an abnormality of mitochondria. The next step was a molecular genetic test for mutations. 1. The molecular genetic test was for mutations []: - a) In mitochondrial RNA - b) In nuclear DNA - c) In mitochondrial DNA - d) In cytoplasmic DNA 2. [Heteroplasmy] was high mainly in its muscle tissue (78%) and in the cells of the urinary sediment (93%), while the threshold value for the onset of the disease is: - a) 50% - b) 60% - c) 70% - d) 80% 3. This is []: - a) A proportion of mutated copies of mtDNA to the total number of mtDNA - b) A proportion of normal copies of mtDNA to the total number of mtDNA - c) A ratio of mutated mtDNA to nuclear DNA - d) A ratio of normal mtDNA to total DNA 4. This confirmed the diagnosis of []: - a) MELAS syndrome - b) MERRF syndrome - c) Leigh syndrome - d) Kearns-Sayre syndrome 5. From the age of 11, attacks of migraine and stroke-like events occurred. From the age of 16, the boy developed hearing loss, epilepsy, and: - a) Eyelid ptosis - b) Muscle wasting - c) Cardiac arrhythmias - d) Tremors 6. From the age of 18, the boy developed severe depression and non-obstructive hypertrophic cardiomyopathy. On the grounds of chronic [. ], the boy died at the age of 20 during a respiratory infection disease: - a) Metabolic alkalosis - b) Metabolic acidosis - c) Respiratory acidosis - d) Respiratory alkalosis 7. His younger sister had at the age of 18 insulin-dependent diabetes mellitus and hearing loss, most likely she: - a) Also inherited the mutation - b) Did not inherit the mutation - c) Acquired the mutation later in life - d) Is a carrier of the mutation 8. In addition, [mother] of the children had to be examined; this syndrome has: - a) Autosomal dominant heredity - b) Autosomal recessive heredity - c) Mitochondrial/maternal heredity - d) X-linked heredity 9. The next step was a molecular genetic test for mutations []: - a) In mitochondrial RNA - b) In nuclear DNA - c) In mitochondrial DNA - d) In cytoplasmic DNA 10. The syndrome associated with high [heteroplasmy] in mitochondrial DNA is characterized by: - a) MELAS syndrome - b) MERRF syndrome - c) Leigh syndrome - d) Kearns-Sayre syndrome --- ↑ ### Answers: 1. In mitochondrial DNA 2. 70% 3. A proportion of mutated copies of mtDNA to the total number of mtDNA 4. MELAS syndrome 5. Eyelid ptosis 6. Metabolic acidosis 7. Also inherited the mutation 8. Mitochondrial/maternal heredity 9. In mitochondrial DNA 10. MELAS syndrome Here is the multiple-choice quiz based on the text provided: ### Multiple Choice Quiz Mutation is a rare genetic variant that affects the primary structure of DNA. If one nucleotide is exchanged, it is a: 1. [] mutation: - a) Frame - b) Chromosome - c) Point - d) Gene 2. Such mutation that leads to an amino acid exchange is called a [] mutation: - a) Silent - b) Nonsense - c) Missense - d) Frameshift 3. If a stop codon is created by a nucleotide exchange, it is a [] mutation: - a) Point - b) Missense - c) Nonsense - d) Silent 4. Formation of premature stop codon may also be due to a [] mutation: - a) Missense  - b) Nonsense - c) Frameshift - d) Silent 5. The previously mentioned mutations belong to [] mutations: - a) Chromosome - b) Gene - c) Genome - d) Point 6. Larger changes, such as deletions, are [] mutations: - a) Gene - b) Point - c) Chromosome - d) Dynamic 7. Trisomy and monosomy are among the [] mutations: - a) Chromosome - b) Gene - c) Point - d) Genome 8. Mutations that occur gradually through premutation are called []: - a) Point - b) Chromosome - c) Dynamic - d) Gene 9. Such mutations are caused by the []: - a) Deletion - b) Amplification of a small number of nucleotides - c) Substitution - d) Inversion 10. An example of a syndrome caused by such a mutation is []: - a) Down syndrome - b) Turner syndrome - c) Fragile X syndrome - d) Klinefelter syndrome --- ### Answers: 1. Point 2. Missense 3. Nonsense 4. Frameshift 5. Gene 6. Chromosome 7. Genome 8. Dynamic 9. Amplification of a small number of nucleotides 10. Fragile X syndrome A hereditary disease occurs in the European population; patients suffer from repeated severe pulmonary infections, failure to thrive and poor growth. It is one of the most common hereditary diseases, manifests from childhood and can threaten the patient's life. It’s called ________. Other symptoms of the disease include insufficiency of pancreatic exocrine secretion, clubbed fingers, male infertility and _________ of electrolytes in sweat. The mutation that causes this disease is in the gene ________. The heredity of this disease is ________ and the name of the most common mutation in our (European) population is ________. This mutation can be characterized at the DNA level as ________. This disease ________ in the newborn screening prevention program in Czech Republic (in Central Europe). Parents who already have an afflicted child and plan to conceive another can use ________, when only a genetically healthy embryo is selected for transfer to the uterus. --- 1. What is the name of the disease that causes repeated pulmonary infections, poor growth, and other symptoms in the European population? a) Huntington's disease b) Phenylketonuria c) Tay-Sachs disease d) Cystic fibrosis 2. What is a common symptom of the disease, related to electrolytes? a) Low concentration in sweat b) A moderate concentration in sweat c) No change in sweat concentration d) A high concentration in sweat 3. The mutation that causes cystic fibrosis is found in the gene for what? a) Potassium channel b) Sodium channel c) Chloride channel d) Calcium channel 4. The inheritance pattern of this disease is: a) Autosomal dominant b) X-linked recessive c) Autosomal recessive d) Y-linked 5. What is the most common mutation in the European population that causes cystic fibrosis? a) ΔG139 b) ΔF508 c) ΔH213 d) ΔT421 o mutation characterized at the DNA level? 6. How is the ΔF508 a) An insertion of 2 nucleotides b) A substitution of 3 nucleotides c) A deletion of 3 nucleotides d) A duplication of 5 nucleotides 7. How is the disease tested in newborns in the Czech Republic? a) General physical examination b) Through the newborn screening prevention program  c) Postnatal hair sample d) Via parental genetic tests only 8. What method can parents use to ensure that they have a genetically healthy child? a) Preimplantation genetic screening b) Prenatal genetic testing only c) Assisted reproduction methods with preimplantation genetic diagnosis d) Adoption --- **Correct Answers:** 1. d) Cystic fibrosis 2. d) A high concentration in sweat 3. c) Chloride channel 4. c) Autosomal recessive 5. b) ΔF508 6. c) A deletion of 3 nucleotides 7. b) Through the newborn screening prevention program 8. c) Assisted reproduction methods with preimplantation genetic diagnosis A 4.5-year-old boy was referred to the genetic clinic with short stature and abnormal teeth development by an endocrinologist. The overall examination revealed hypotonia, relaxed posture, joint hypermobility, and hyperlordosis. His teething was abnormal. He still has his deciduous teeth, which were severely devastated. The teeth were yellow-brown in color. The boy was from a II. physiological pregnancy of unrelated parents with adequate postnatal adaptation and psychomotor development without abnormality. The boy's mother had the same problems with teeth and growth, as did her mother and her grandmother. In contrast, the mother's brother (boy's uncle) and the mother's second son (boy's brother) were of average height and had both deciduous and permanent teeth without pathologies. The mother's pediatric documentation revealed that she was born with a neonatal left clavicle fracture, had a bilateral femur fracture at 5 months of age, a right parieto-temporal bone fracture at 10 months of age, and a right tibia fracture at 2 years of age. Her pediatrician confirmed _______ tooth enamel and made a prognosis of _______ bone fragility. Even at an older age, the mother experienced numerous fractures, caused each time by falling from a horse. Molecular genetic testing of the COL1A2 gene for suspected _______ disease was performed in the context of an _______ type of inheritance. The diagnosis was confirmed, both mother and son were _______ for the causal mutation c.1171G>A (p. Gly391Ser). This mutation led to a _______ of glycine by serine in the _______ molecule, which ultimately affected its stability and functionality. --- 1. The patient's teeth were confirmed to have: a) Overgrown enamel b) Hypoplastic tooth enamel c) Discolored tooth roots d) Inverted enamel structures 2. The mother had a prognosis of: a) Increased bone fragility b) Decreased bone flexibility c) Strengthened bone density d) Reduced bone elasticity 3. What was the suspected disease identified in both the mother and son? a) Marfan syndrome b) Ehlers-Danlos syndrome c) Osteogenesis imperfecta d) Achondroplasia 4. The inheritance pattern of this disease was identified as: a) Autosomal recessive b) X-linked dominant c) Autosomal dominant d) Y-linked 5. The molecular genetic test confirmed both the mother and son were: a) Homozygous b) Heterozygous c) Hemizygous d) Non-carriers 6. What type of mutation was identified? a) Deletion  b) Insertion c) Substitution d) Duplication 7. The mutation affected which molecule? a) Keratin b) Elastin c) Collagen d) Myosin --- **Correct Answers:** ↑ 1. b) Hypoplastic tooth enamel 2. a) Increased bone fragility 3. c) Osteogenesis imperfecta 4. c) Autosomal dominant 5. b) Heterozygous 6. c) Substitution 7. c) Collagen Genetic variability in bacteria, in addition to mutations, is provided by the _______. The functional, transcriptional, and regulatory unit of prokaryotic gene expression is called a/an _______. It includes a group of structural genes that are regulated together and are transcribed _______. For the DNA region in Escherichia coli genome that is responsible for lactose utilization, lactose is a substrate of the metabolic pathway and functions as a/an _______ of gene expression. In the DNA region for synthesis of tryptophan, tryptophan is a product of the metabolic pathway and functions as a/an _______. These effector molecules bind to the _______ and cause its conformational, allosteric change that alters its ability to bind to the DNA sequence called _______. --- 1. What mechanism provides genetic variability in bacteria besides mutations? a) Binary fission b) Horizontal transfer of genetic information c) Vertical gene transfer d) Conjugation only 2. The functional unit of prokaryotic gene expression is called: a) Operon b) Codon c) Promoter d) Enhancer 3. The structural genes in an operon are transcribed into: a) Several different mRNA molecules b) One mRNA molecule, i.e. polycistronic transcription  c) Non-coding RNA molecules d) Two different RNA molecules 4. In the lactose operon, lactose acts as: a) Repressor b) Enhancer c) Inducer d) Substrate only 5. In the tryptophan operon, tryptophan functions as: a) Activator b) Co-repressor c) Inducer d) Enhancer 6. These effector molecules bind to: a) Regulatory protein/repressor b) Operator only c) RNA polymerase d) DNA polymerase 7. The effector molecule alters the ability of the repressor to bind to the: a) Promoter b) Operator c) Terminator d) Start codon --- **Correct Answers:** ↑ 1. b) Horizontal transfer of genetic information 2. a) Operon 3. b) One mRNA molecule, i.e. polycistronic transcription 4. c) Inducer 5. b) Co-repressor 6. a) Regulatory protein/repressor 7. b) Operator Here are 15 multiple-choice questions based on the provided text, with the correct answers listed at the bottom: --- Genotoxicology is a field that studies the effects of environmental factors on the human genome. Substances with genotoxic effects can also be found in our food. Certain nutritional factors are closely related to different stages of a carcinogenic process. 1. A high fat intake is one of the [______] factors in the development of tumors. a) initiation b) promotion c) protective d) carcinogenic 2. Among the so-called initiation factors are [______] and are products of [______]. a) aflatoxins, bacteria b) mycotoxins, molds c) resveratrol, plants d) pesticides, chemicals 3. The & aflatoxin B1 is a proven human mutagen and carcinogen. It is associated with a specific tumor - [______]. a) lung cancer b) skin cancer c) hepatocellular carcinoma d) breast cancer 4. The risk of hepatocellular carcinoma is increased with a simultaneous [______] infection, which acts as a [______] factor in the development of this tumor. a) hepatitis, initiation b) hepatitis, promotion c) HIV, initiation d) HIV, promotion 5. The so-called nutritional protective factors include, among others, resveratrol, a substance present in [______], which, in addition to antimutagenic and anticarcinogenic effects, also [______]. a) white wine, raises cholesterol level b) red wine, lowers cholesterol level c) green tea, raises cholesterol level d) citrus fruits, lowers cholesterol level 6. Various methods are used to test for genotoxic effects. The Salmonella typhimurium test is called [______] and is used to test for [______] mutations. a) comet assay, gene b) Ames test, gene c) micronucleus test, chromosomal d) cytogenetic analysis, chromosomal 7. The [______] and cytogenetic analysis of peripheral lymphocytes are used to test for chromosomal aberrations. a) comet assay b) Ames test  c) micronucleus test d) resveratrol test 8. The method that detects DNA damage and the activity of repair systems in individual eukaryotic cells is called [______]. a) Ames test b) micronucleus test c) comet assay d) cytogenetic analysis 9. The result of the comet assay shows us the number of [______]. a) chromosomes b) DNA fragments c) cells d) genes 10. Methods of testing mutagenic effects serve to [______]. a) identify carcinogenic substances b) predict carcinogenic effects c) cure cancer d) treat genetic disorders 11. The detection of chromosomal aberrations serves as a biomarker of the [______] biologic effect of genotoxicity. a) late b) intermediate c) early d) final 12. The [______] test is used to identify gene mutations in bacteria. a) comet assay b) Ames test c) micronucleus test d) cytogenetic analysis 13. The aflatoxin B1, associated with hepatocellular carcinoma, is classified as a [______] mutagen. a) environmental b) genetic c) chemical d) physical 14. A high fat intake contributes to tumor development by acting as a [______] factor. a) protective b) carcinogenic c) promotion d) initiation 15. Resveratrol, found in red wine, helps to [______] cholesterol levels in addition to its antimutagenic effects. a) raise b) lower c) stabilize d) fluctuate --- **Correct Answers:** & 1. b) promotion 2. b) mycotoxins, molds 3. c) hepatocellular carcinoma 4. b) hepatitis, promotion 5. b) red wine, lowers cholesterol level 6. b) Ames test, gene 7. c) micronucleus test 8. c) comet assay 9. b) DNA fragments 10. b) predict carcinogenic effects 11. c) early 12. b) Ames test 13. c) chemical 14. c) promotion 15. b) lower Here are the multiple-choice questions based on the provided text, with the correct answers listed at the bottom: --- A double line in the pedigree indicates [______]. 1. a) a consanguineous relationship b) a marital relationship c) siblings d) twins The black arrow in the genetic pedigree generally refers to the proband, who is the first person in a family [______]. 2. a) to receive genetic counselling and testing for suspected hereditary risk b) with an affected child c) with a normal genetic profile d) who is at no risk of disease The coefficient of inbreeding for a marked affected child is [______]. 3. a) 1/8 b) 1/32 c) 1/16 d) 1/64 The frequency of this disease in the European population is 1:40,000. The frequency of heterozygotes of this disease in the European population is [______]. 4. a) 0.0012  b) 0.0099 (approximately 1 in 101) c) 0.05 d) 0.02 The affected boy came to the pediatric clinic with unusual symptoms such as dystonic walking difficulties, frequent falls, and jerky movements of the head. Other symptoms include: 5. a) blindness and deafness b) muscle atrophy and joint pain c) oculocutaneous telangiectasia, pigmentations, sensitivity to sunlight, increased α- fetoprotein level, and immunodeficiency d) seizures and high blood pressure Complex chromatid exchanges involving chromosomes 14, 22, 2, and 7 were found in the boy's peripheral blood lymphocytes. Genes encoding [______] are located on these chromosomes. 6. a) neurotransmitters b) hemoglobin and insulin c) immunoglobulins and T-lymphocyte receptors d) growth hormones Genetic testing revealed a mutation in the ATM gene. This is a disease called [______]. 7. a) Fragile X syndrome b) Ataxia telangiectasia c) Cystic fibrosis d) Duchenne muscular dystrophy Ataxia telangiectasia is also called [______]. 8. a) Noonan syndrome b) Louis-Bar syndrome c) Angelman syndrome d) Rett syndrome The inheritance of this disease is [______]. 9. a) autosomal dominant b) X-linked dominant c) autosomal recessive d) X-linked recessive The ATM gene product is a kinase that affects the activity of [______]. 10. a) the RB1 gene b) the TP53 gene c) the CFTR gene d) the FMR1 gene The TP53 gene product is a [______]. 11. a) tumor suppressor gene b) oncogene c) DNA repair enzyme d) growth factor --- **Correct Answers:** - 1. a) a consanguineous relationship 2. a) to receive genetic counselling and testing for suspected hereditary risk & 3. c) 1/16 4. b) 0.0099 (approximately 1 in 101) 5. c) oculocutaneous telangiectasia, pigmentations, sensitivity to sunlight, increased α- fetoprotein level, and immunodeficiency 6. c) immunoglobulins and T-lymphocyte receptors 7. b) Ataxia telangiectasia 8. b) Louis-Bar syndrome 9. c) autosomal recessive 10. b) the TP53 gene 11. a) tumor suppressor gene Here are the multiple-choice questions based on the provided text, with the correct answers listed at the bottom: --- Repeated spontaneous abortions are an indication [______]. 1. a) for genetic consultation b) for immediate surgery c) for psychological counseling d) for hormone therapy Further, they are indications for postnatal examination of the parent's blood to detect [______]. 2. a) chromosomal count b) blood type c) balanced forms of aberration and thrombophilic mutations d) hemoglobin levels An indication for prenatal invasive examination of the fetal karyotype is, among others, atypia of the biochemical screening performed in the first and second trimester. The biochemical marker of the first trimester is [______]. 3. a) beta-hCG b) PAPP-A protein c) estradiol d) AFP Biochemical examination in the second trimester includes testing of [______] blood levels. 4. a) creatinine and uric acid  b) cholesterol and triglycerides c) alpha-fetoprotein, chorionic gonadotropin, and estriol d) prolactin and oxytocin Another indication for prenatal invasive examination of the fetal karyotype is/are [______]. 5. a) abnormal fetal movements b) low maternal blood pressure c) abnormalities detected on ultrasound d) morning sickness In the first trimester, during the ultrasound examination, the presence of the nasal bone and the width of [______] are determined. 6. a) the fetal head b) the placenta c) nuchal translucency d) the cervix The so-called integrated test is [______]. 7. a) a combined first trimester screening and triple test b) a test for gestational diabetes c) a blood test for maternal cholesterol levels d) a fetal growth assessment The prenatal invasive examination of the fetal karyotype, which is associated with the lowest risk of fetal loss after the procedure, is the examination of [______]. 8. a) chorionic villi b) umbilical cord blood  c) cells of amniotic fluid d) placental tissue These examinations are among the methods of [______] prevention. 9. a) primary b) tertiary c) secondary d) quaternary --- **Correct Answers:** & 1. a) for genetic consultation 2. c) balanced forms of aberration and thrombophilic mutations 3. b) PAPP-A protein 4. c) alpha-fetoprotein, chorionic gonadotropin, and estriol 5. c) abnormalities detected on ultrasound 6. c) nuchal translucency 7. a) a combined first trimester screening and triple test 8. c) cells of amniotic fluid 9. c) secondary prevention Here are the multiple-choice questions based on the provided text, with the correct answers listed at the bottom: --- Most hereditary neoplasias are caused by mutations in [______]. 1. a) oncogenes b) tumour suppressor genes c) proto-oncogenes d) mutator genes The inheritance of these tumors is [______]. 2. a) autosomal recessive with full penetrance b) autosomal dominant with incomplete penetrance c) X-linked recessive d) autosomal dominant with full penetrance An individual who carries a mutation - is predisposed to develop a tumor as a result of [______] in a single somatic cell of the body. 3. a) homozygosity b) trisomy c) heterozygosity d) tetraploidy This occurs by genetic and epigenetic mechanisms, probably most commonly by [______]. 4. a) insertion b) recombination  c) translocation d) duplication An example of a tumor caused by a mutation of a tumour suppressor gene is Wilms' tumor. It can be associated with the following syndromes: [______]. 5. a) Lynch syndrome and Peutz-Jeghers syndrome b) WAGR association, Beckwith-Wiedemann syndrome, Denys-Drash syndrome c) Li-Fraumeni syndrome d) Von Hippel-Lindau syndrome Hereditary Non-Polyposis Colon Cancer (HNPCC) - [______] is caused by mutations in [______]. 6. a) Lynch syndrome; mutator genes b) Peutz-Jeghers syndrome; tumor suppressor genes c) Cowden syndrome; oncogenes d) Lynch syndrome; proto-oncogenes HNPCC is associated with [______], because it involves mutation of [______] genes. 7. a) aneuploidy; repair b) microsatellite instability; mismatch repair c) chromosomal instability; mutator d) gene duplication; tumour suppressor Rarely, hereditary neoplastic syndrome is caused by a mutation of an oncogene. Multiple endocrine neoplasia, type 2 is a disease caused by [______]. 8. a) deletion of the RB1 gene b) loss of p53 function  c) activation of the RET oncogene d) overexpression of cyclin D1 The primary tumor in this disease is [______]. 9. a) medullary thyroid cancer b) breast cancer c) prostate cancer d) glioblastoma --- **Correct Answers:** 1. b) tumour suppressor genes 2. b) autosomal dominant with incomplete penetrance 3. c) heterozygosity 4. b) recombination 5. b) WAGR association, Beckwith-Wiedemann syndrome, Denys-Drash syndrome 6. a) Lynch syndrome; mutator genes 7. b) microsatellite instability; mismatch repair 8. c) activation of the RET oncogene 9. a) medullary thyroid cancer A 70-year-old man presented to his primary care physician with 2 months of fatigue and 10- pound weight loss. He noted a general sense of malaise and feeling poor. On physical examination, the clinician was able to palpate the spleen 4 cm below the costal margin – splenomegaly, but noted no palpable lymphadenopathy. Family history was non-contributory. Routine labs were drawn of complete blood count (CBC) and differential results. The CBC reveals marked elevated [______] count with absolute neutrophilia, eosinophilia, and basophilia. 1. a) red blood cell b) white blood cell c) platelet d) hemoglobin There was a "left shift," meaning there is an increase in immature bands, metamyelocytes, and myelocytes in the sample of blood. Cytogenetic karyotype analysis and FISH method were indicated for determination of [______]. 2. a) BCR-ABL2 oncogene b) Philadelphia chromosome c) BRCA mutation d) p53 mutation This aberration occurs in 95% of patients with [______]. 3. a) AML – acute myelogenous leukemia  b) ALL – acute lymphoblastic leukemia c) CLL – chronic lymphocytic leukemia d) CML – chronic myelogenous leukemia An extremely high incidence and predominance of myeloid blasts in the periphery was not recorded, thus it was not an acute form of the disease. Transformation of progenitor cells occurs by expression of the [______] oncogene. 4. a) BCR‑ABL1 b) MYC c) KRAS d) JAK2 The proto-oncogene encodes a [______]; the second cluster region gene encodes a phosphoprotein. 5. a) receptor tyrosine kinase b) transcription factor c) nonreceptor tyrosine kinase d) cell-cycle regulator The oncogene has constitutive [______] activity, phosphorylates several cytoplasmic substrates, and thereby activates signaling cascades that control growth and differentiation. 6. a) MAP kinase b) tyrosine kinase c) serine-threonine kinase d) phosphatase The cause of this disease lies in the chromosomal aberration, [______] and [______]. 7. a) deletion of one gene; mutation of another gene b) reciprocal translocation; fusion of two genes c) insertion mutation; loss of function d) chromosomal duplication; loss of gene function The origin of [______] is the result of the chromosomal fusion. 8. a) kinase protein b) receptor protein c) fusion protein d) cyclin protein Patients are treated with the oral targeted therapy imatinib, which is a specific [______] and allogeneic bone marrow transplantation therapy. 9. a) DNA polymerase inhibitor b) tyrosine kinase inhibitor c) B-cell growth inhibitor d) angiogenesis inhibitor --- **Correct Answers:** 1. b) white blood cell & 2. b) Philadelphia chromosome 3. d) CML – chronic myelogenous leukemia 4. a) BCR‑ABL1 5. c) nonreceptor tyrosine kinase 6. b) tyrosine kinase  & 7. b) reciprocal translocation; fusion of two genes 8. c) fusion protein 9. b) tyrosine kinase inhibitor Here are the multiple-choice questions based on the provided text, with the correct answers listed at the bottom: --- Sex differences in the occurrence of certain disorders are mostly caused by a sex-linked inheritance. How do you determine whether a disease (e.g. pyloric stenosis), where there is a different incidence in males and females, is not X-linked recessive but multifactorial? In the case of multifactorial inheritance, the disease [______]. 1. a) is transmitted from father to daughter b) is transmitted from the afflicted father to son c) skips generations d) is never transmitted from father to offspring In multifactorial inheritance, the degree of genetic determination of a trait or disease is determined by the incidence of the disease [______]. 2. a) in males and females b) in twins, both monozygotic and dizygotic c) among all family members  d) in unrelated individuals To assess the relative contribution of genes and the environment to disease development, we determine the value of [______]. 3. a) penetrance b) expressivity c) heritability d) recurrence risk If this value is between 0-0.2, it implies a [______] genetic determination. - 4. a) moderate b) strong c) low d) high A value between 0.2 and 0.5 represents [______] genetic disposition. 5. a) minimal b) low c) average d) very high A value estimated to range from 0.5 to 1 means that the determination is primarily [______]. 6. a) environmental  b) genetic c) developmental d) external The risk of multifactorial isolated congenital anomalies for first-degree relatives is calculated using a formula based on the [______]. 7. a) number of siblings b) population frequency of the disease c) severity of the disease d) gender ratio Two healthy parents have a daughter with an isolated congenital heart defect. The frequency of the defect in the population is 10/1000. The risk of affliction for the same defect in their next pregnancy is [______]. 8. a) 5% b) 20% c) 10% d) 1% The risk of disease for the child of their afflicted daughter is [______]. 9. a) 1% b) 20% c) 5% d) 10% Prevention of multifactorial isolated congenital anomalies is ensured by [______]. 10. a) prenatal care b) genetic screening c) preconception care d) postnatal care This method is a part of [______] prevention. 11. a) primary b) secondary c) tertiary d) quaternary --- **Correct Answers:** ( 1. b) is transmitted from the afflicted father to son 2. b) in twins, both monozygotic and dizygotic 3. c) heritability 4. c) low 5. c) average 6. b) genetic 7. b) population frequency of the disease 8. c) 10% 9. d) 10% S 10. c) preconception care 11. a) primary Here are the multiple-choice questions based on the provided text, with the correct answers listed at the bottom: --- A previously healthy 45-year-old man was admitted for a myocardial infarction. He had a small xanthoma on his right Achilles tendon. His brother also had coronary artery disease (CAD), his mother, maternal grandmother, and two maternal uncles had died of CAD. In addition to his family history, his risk factors for CAD and atherosclerosis included an elevated level of low-density lipoprotein (LDL) cholesterol, mild obesity, physical inactivity, and cigarette smoking. Two of his three children were also found to have elevated LDL cholesterol, while other relatives were healthy. The patient was believed to have a/an [______] form of [familial hypercholesterolemia]. 1. a) autosomal recessive b) autosomal dominant c) X-linked recessive d) mitochondrial Molecular analysis revealed that he was [______] for a deletion of the 5’ end of the LDL receptor gene (LDLR). 2. a) homozygous  b) heterozygous c) hemizygous d) compound heterozygous The cardiologist explained to the patient that in addition to statin therapy, effective treatment of his CAD required [______], because this/these change(s) is/are among the [______] factors for the development of atherosclerosis. 3. a) medication and genetic testing b) dietary and lifestyle changes c) surgery and genetic counseling d) anticoagulant therapy and bed rest As these changes is among [____] 4. a) non-modifiable b) modifiable c) hereditary d) irreversible The patient was not compliant with treatment and died a year later of a myocardial infarction. Each child of the patient had a [______] chance of inheriting the mutant allele. 5. a) 25% b) 50% c) 75% d) 100% The risk of this disease, as well as other diseases with this type of inheritance, increases with increasing [______] age. 6. a) maternal b) paternal c) grandparental d) sibling The disorders of the same inheritance type are [______]. 7. a) Marfan syndrome, Huntington disease, achondroplasia b) cystic fibrosis, sickle cell anemia, Tay-Sachs disease c) hemophilia, Duchenne muscular dystrophy, color blindness d) mitochondrial myopathy, Leber hereditary optic neuropathy --- & **Correct Answers:** 1. b) autosomal dominant 2. b) heterozygous 3. b) dietary and lifestyle changes 4. b) modifiable 5. b) 50% 6. b) paternal 7. a) Marfan syndrome, Huntington disease, achondroplasia Here are the multiple-choice questions based on the provided text, with the correct answers listed at the bottom: --- The HLA phenotypes of the family members are the following: - Father: A3, A23, B7, B49 - Mother: A1, A24, B27, B35 - Their child: A3, A24, B7, B35 The haplotype means [______]. 1. a) a single allele inherited from one parent b) a combination of alleles in linkage disequilibrium inherited together c) a set of genes unrelated to each other d) an individual chromosome copy HLA genes are located in humans on [______]. 2. a) the short arm of chromosome 6 b) the long arm of chromosome 7 c) chromosome 17 d) the X chromosome The haplotypes of the father are [______]. 3. a) A1 B27 / A23 B49 b) A3 B7 / A23 B49 c) A3 B7 / A24 B35  d) A1 B7 / A24 B49 The haplotypes of the mother are [______]. 4. a) A3 B7 / A24 B35 b) A23 B49 / A24 B35 c) A1 B27 / A24 B35 d) A1 B27 / A3 B7 The haplotypes of the child are [______]. 5. a) A3 B7 / A24 B35 b) A1 B27 / A3 B7 c) A1 B27 / A24 B35 d) A3 B7 / A23 B49 --- **Correct Answers:** 1. b) a combination of alleles in linkage disequilibrium inherited together 2. a) the short arm of chromosome 6 3. b) A3 B7 / A23 B49 4. c) A1 B27 / A24 B35 5. a) A3 B7 / A24 B35 Here is a set of multiple-choice questions based on the provided text: --- Nondisjunction of one pair of chromosomes in meiotic division creates [______]. 1. a) disomic and nullisomic b) trisomic and monosomic c) euploid and aneuploid d) haploid and diploid After fertilization with a normal gamete, these nondisjunction events give rise to [______]. 2. a) trisomies and monosomies b) diploid and tetraploid conditions c) euploid and aneuploid conditions d) nullisomic and disomic conditions Nondisjunction in mitosis produces a [______]. 3. a) mosaic b) trisomy c) monosomy d) polyploidy In Down syndrome, the mosaic is more often formed by the [______]. 4. a) loss of one chromosome from a trisomic zygote b) gain of an extra chromosome in mitosis c) nondisjunction during meiosis I d) duplication of chromosome segments This mechanism can also result in a/an [______]. 5. a) uniparental disomy b) triploidy c) euploidy d) aneuploidy Another mechanism leading to numerical chromosome changes is the [______]. 6. a) anaphase lag b) chromosomal breakage c) centromere malfunction d) centrosome duplication Numerical changes of gonosomes survive better, so pentasomy X with the karyotype [______] can occur. 7. a) 49,XXXXX b) 45,XXX c) 47,XXY d) 48,XXXX This karyotype arises by nondisjunction in M1 and double nondisjunction in M2 during [______]. 8. a) oogenesis b) spermatogenesis c) mitosis d) meiosis II This mechanism produces the [______] egg. 9. a) XXXX & b) XXX c) XX d) X The [______] egg is fertilized by normal X sperm. 10. a) XXXX b) XXX c) XX d) X Another possibility involves nondisjunction in M1 and nondisjunction of one X chromosome in M2 during oogenesis and fertilization of a [______] egg by abnormal sperm XX, which arises by an error in [______]. 11. a) XXX; M2 b) XX; M1 c) XXXX; M1 d) XXX; M1 **Correct Answers:** 1. a) disomic and nullisomic 2. a) trisomies and monosomies 3. a) mosaic 4. a) loss of one chromosome from a trisomic zygote 5. a) uniparental disomy 6. a) anaphase lag 7. a) 49,XXXXX 8. a) oogenesis 9. a) XXXX 10. a) XXX; M1 Here is a set of multiple-choice questions based on the provided text: --- Pathologies resulting from the disruption of imprinting arise early in embryonic development. The fusion of two sperms and an egg results in the formation of [______]. 1. a) partial hydatiform mole X b) complete hydatiform mole c) non-molar product with a reduced placenta d) ovarian teratoma The fusion of a diploid sperm and an egg results in the formation of [______]. 2. a) partial hydatiform mole b) complete hydatiform mole X c) non-molar product with a reduced placenta d) ovarian teratoma The fusion of a sperm and an enucleated egg, when the chromosomes of the sperm duplicate, produces [______]. 3. a) complete hydatiform mole b) partial hydatiform mole c) non-molar product with a reduced placenta X d) ovarian teratoma The fusion of a sperm and a diploid egg produces [______]. 4. a) non-molar product with a reduced placenta b) partial hydatiform mole c) complete hydatiform mole X d) ovarian teratoma The consequence of division of an unfertilized egg is [______]. 5. a) ovarian teratoma ↳ b) partial hydatiform mole  c) complete hydatiform mole d) non-molar product with a reduced placenta Several syndromes are caused by imprinting errors. Prader-Willi syndrome arises from several mechanisms. The most common is [______]. 6. a) deletion of active alleles on the paternal chromosome b) maternal uniparental disomy X c) paternal uniparental disomy d) complete hydatiform mole Another mechanism for Prader-Willi syndrome is [______]. 7. a) maternal uniparental disomy b) deletion of active alleles on the paternal chromosome c) complete hydatiform mole d) ovarian teratoma Angelman syndrome is a consequence of [______]. 8. a) deletion of active allele or alleles on the maternal chromosome b) paternal uniparental disomy c) maternal uniparental disomy d) partial hydatiform mole In some patients with Angelman syndrome, [______] is found. 9. a) paternal uniparental disomy b) maternal uniparental disomy c) complete hydatiform mole d) ovarian teratoma Another syndrome associated with imprinting errors is [______]. 10. a) Beckwith-Wiedemann syndrome b) Angelman syndrome c) Prader-Willi syndrome d) Ovarian teratoma **Correct Answers:** & 1. a) partial hydatiform mole 2. a) partial hydatiform mole 3. a) complete hydatiform mole 4. a) non-molar product with a reduced placenta 5. a) ovarian teratoma 6. a) deletion of active alleles on the paternal chromosome 7. a) maternal uniparental disomy 8. a) deletion of active allele or alleles on the maternal chromosome 9. a) paternal uniparental disomy 10. a) Beckwith-Wiedemann syndrome Here is a set of multiple-choice questions based on the provided text: --- Chromosomal aberrations are a common cause of cancer. The critical lesion for chromosomal aberrations are [______]. * 1. a) double-strand DNA breaks b) single-strand DNA breaks c) point mutations d) insertions Chromosomal double-strand DNA breaks are repaired by two main mechanisms. The more precise one is [______]. 2. a) homologous recombination X b) non-homologous end joining c) base excision repair d) nucleotide excision repair Chromosomal aberrations in tumors can be simple balanced or unbalanced rearrangements, but often they are complex rearrangements. Some complex rearrangements result from a single catastrophic event called [______]. * 3. a) chromotripsis b) chromatin remodeling c) translocation  d) inversion * Chromotripsis involves the massive fragmentation of chromosomes and chaotic repair of [______], leading to chromosome rearrangements and copy number changes. ⑭ 4. a) double-strand DNA breaks b) single-strand DNA breaks c) point mutations d) insertions Multiple copies of genes can lead to the gain of (proto)oncogenes, while the loss of copies of different genes can lead to the loss of tumor suppressor genes or [______] and thus to carcinogenesis. ⑭ 5. a) micro RNA genes b) coding genes c) mitochondrial genes d) ribosomal RNA genes The prerequisite for this phenomenon is the failure of [______], which is likely due to a defect in the [______] gene. 6. a) apoptosis / TP53 b) autophagy / BRCA1 c) necrosis / Rb d) senescence / PTEN **Correct Answers:** 1. a) double-strand DNA breaks 2. a) homologous recombination 3. a) chromotripsis 4. a) double-strand DNA breaks 5. a) micro RNA genes 1. a) apoptosis / TP53