Podcast
Questions and Answers
What is primarily affected in 70-80% of CMT cases?
What is primarily affected in 70-80% of CMT cases?
- Duplication of chromosome 22
- Duplication of chromosome 17 (correct)
- Translocation of large regions on chromosome 9
- Deletion of peripheral myelin protein 22
What is a consequence of abnormal myelin production in CMT?
What is a consequence of abnormal myelin production in CMT?
- Increase in muscle mass
- Enhanced breathing capacity
- Demyelinating neuropathy (correct)
- Improvement of touch sensation
What typically occurs due to unbalanced translocation in gametes?
What typically occurs due to unbalanced translocation in gametes?
- Loss of genetic material without phenotypic impact
- Gain or loss of chromosomal material leading to phenotypic impact (correct)
- Enhanced cell function
- Total chromosomal stability
What characterizes the Philadelphia Chromosome associated with CML?
What characterizes the Philadelphia Chromosome associated with CML?
Why is early diagnosis critical in genetic diseases?
Why is early diagnosis critical in genetic diseases?
What type of mutation involves a permanent change in the DNA sequence?
What type of mutation involves a permanent change in the DNA sequence?
Which of the following is an example of a copy number variation?
Which of the following is an example of a copy number variation?
What results from a duplication of the MYC gene?
What results from a duplication of the MYC gene?
Which genetic disorder is associated with repeat expansion of the CAG sequence?
Which genetic disorder is associated with repeat expansion of the CAG sequence?
Down Syndrome is a result of which chromosomal abnormality?
Down Syndrome is a result of which chromosomal abnormality?
What is a common effect of chromosomal mutations?
What is a common effect of chromosomal mutations?
What type of mutations are hereditary mutations usually associated with?
What type of mutations are hereditary mutations usually associated with?
What characterizes de novo mutations?
What characterizes de novo mutations?
Which of the following statements is true regarding acquired/somatic mutations?
Which of the following statements is true regarding acquired/somatic mutations?
What is the correct term for two identical alleles of a gene?
What is the correct term for two identical alleles of a gene?
How are autosomal dominant disorders inherited?
How are autosomal dominant disorders inherited?
What is true about a recessive allele?
What is true about a recessive allele?
What type of inheritance results in an equal likelihood of being affected for both males and females?
What type of inheritance results in an equal likelihood of being affected for both males and females?
What is indicated by a genotype of Bb for eye color?
What is indicated by a genotype of Bb for eye color?
What percentage chance does a child have of being affected by an autosomal dominant disorder if one parent is affected?
What percentage chance does a child have of being affected by an autosomal dominant disorder if one parent is affected?
What distinguishes a dominant allele from a recessive allele?
What distinguishes a dominant allele from a recessive allele?
What is a common consequence of gamete nondisjunction in germ cells?
What is a common consequence of gamete nondisjunction in germ cells?
Which of the following is true regarding trisomy 21?
Which of the following is true regarding trisomy 21?
What is a characteristic phenotype of Klinefelter's syndrome?
What is a characteristic phenotype of Klinefelter's syndrome?
Which chromosomal abnormality is characterized by a deletion on the short arm of chromosome 5?
Which chromosomal abnormality is characterized by a deletion on the short arm of chromosome 5?
Which syndrome is associated with an extra X chromosome in males?
Which syndrome is associated with an extra X chromosome in males?
What effect does gamete nondisjunction have on autosomal chromosomes?
What effect does gamete nondisjunction have on autosomal chromosomes?
What best describes the outcome of chromosome duplications during meiosis?
What best describes the outcome of chromosome duplications during meiosis?
Which syndrome typically results in a small uterus and underdeveloped secondary sex characteristics?
Which syndrome typically results in a small uterus and underdeveloped secondary sex characteristics?
Which of the following is not a common symptom of Triple X syndrome?
Which of the following is not a common symptom of Triple X syndrome?
What is the primary reason for the difference in severity between sex chromosomal abnormalities and autosomal abnormalities?
What is the primary reason for the difference in severity between sex chromosomal abnormalities and autosomal abnormalities?
What is required for an autosomal recessive disorder to manifest in an individual?
What is required for an autosomal recessive disorder to manifest in an individual?
Which symptom is NOT associated with Cystic Fibrosis?
Which symptom is NOT associated with Cystic Fibrosis?
How is an X-linked recessive disorder inherited in males?
How is an X-linked recessive disorder inherited in males?
What is the primary reason color blindness is more common in males than females?
What is the primary reason color blindness is more common in males than females?
What is the purpose of karyotyping?
What is the purpose of karyotyping?
What is a common use of a pedigree chart?
What is a common use of a pedigree chart?
What is the effect of mitogen in karyotyping?
What is the effect of mitogen in karyotyping?
How do autosomal chromosomes get numbered?
How do autosomal chromosomes get numbered?
What role does trypsin play in the karyotyping process?
What role does trypsin play in the karyotyping process?
Which of these disorders is classified as a multi-gene disorder?
Which of these disorders is classified as a multi-gene disorder?
What is a missense mutation?
What is a missense mutation?
Which type of mutation can lead to frameshifts?
Which type of mutation can lead to frameshifts?
What is the consequence of a nonsense mutation?
What is the consequence of a nonsense mutation?
Which category does a duplication of genetic material fall into?
Which category does a duplication of genetic material fall into?
Cystic Fibrosis is primarily caused by which type of mutation?
Cystic Fibrosis is primarily caused by which type of mutation?
What is a characteristic of a conservative missense mutation?
What is a characteristic of a conservative missense mutation?
Which statement is true regarding frame shifts?
Which statement is true regarding frame shifts?
What is a consequence of gamete nondisjunction during meiosis?
What is a consequence of gamete nondisjunction during meiosis?
Which chromosomal abnormality is most commonly associated with advanced maternal age?
Which chromosomal abnormality is most commonly associated with advanced maternal age?
What is a common outcome for embryos with significant chromosomal deletions?
What is a common outcome for embryos with significant chromosomal deletions?
Which syndrome is characterized by the presence of an extra X chromosome in males?
Which syndrome is characterized by the presence of an extra X chromosome in males?
What is a typical phenotypic feature of Triple X Syndrome?
What is a typical phenotypic feature of Triple X Syndrome?
What is the primary consequence of a frameshift mutation?
What is the primary consequence of a frameshift mutation?
What mechanism leads to Down Syndrome?
What mechanism leads to Down Syndrome?
Which of the following is an example of a chromosomal abnormality?
Which of the following is an example of a chromosomal abnormality?
Which type of mutation is characterized by the formation of inclusion bodies in cells?
Which type of mutation is characterized by the formation of inclusion bodies in cells?
What is a common feature of copy number variations?
What is a common feature of copy number variations?
How does a missense mutation differ from a nonsense mutation?
How does a missense mutation differ from a nonsense mutation?
What role does the MYC gene play in cancer biology?
What role does the MYC gene play in cancer biology?
What is the significance of a germline mutation?
What is the significance of a germline mutation?
What best describes the term 'nondisjunction'?
What best describes the term 'nondisjunction'?
Which type of mutation occurs due to environmental factors or mistakes during DNA replication?
Which type of mutation occurs due to environmental factors or mistakes during DNA replication?
What is the result of inheriting a homozygous genotype, such as BB or bb?
What is the result of inheriting a homozygous genotype, such as BB or bb?
Which statement accurately describes autosomal dominant inheritance?
Which statement accurately describes autosomal dominant inheritance?
What is true about the structure of DNA in human cells?
What is true about the structure of DNA in human cells?
What type of genetic disorder transmission occurs when a dominant allele is present?
What type of genetic disorder transmission occurs when a dominant allele is present?
What does the genotype Bb indicate regarding eye color?
What does the genotype Bb indicate regarding eye color?
Which of the following best describes recessive alleles?
Which of the following best describes recessive alleles?
How does a child inherit an autosomal recessive disorder?
How does a child inherit an autosomal recessive disorder?
What best represents autosomal recessive inheritance in a pedigree analysis?
What best represents autosomal recessive inheritance in a pedigree analysis?
What is the inheritance pattern of Huntington's Disease?
What is the inheritance pattern of Huntington's Disease?
At what age do symptoms of Huntington's Disease typically begin to appear?
At what age do symptoms of Huntington's Disease typically begin to appear?
What is a common symptom associated with Huntington's Disease?
What is a common symptom associated with Huntington's Disease?
How likely is a child to inherit Huntington's Disease if one parent is affected?
How likely is a child to inherit Huntington's Disease if one parent is affected?
Which of the following is NOT a symptom of Huntington's Disease?
Which of the following is NOT a symptom of Huntington's Disease?
What ethical consideration might arise regarding genetic testing for Huntington's Disease in Carl's fetus?
What ethical consideration might arise regarding genetic testing for Huntington's Disease in Carl's fetus?
Which symptom has Carl's mother exhibited that might indicate a neurodegenerative disorder?
Which symptom has Carl's mother exhibited that might indicate a neurodegenerative disorder?
What is a potential outcome of the physical deterioration caused by Huntington's Disease?
What is a potential outcome of the physical deterioration caused by Huntington's Disease?
What is one of the primary components of the HTT gene related to Huntington's Disease?
What is one of the primary components of the HTT gene related to Huntington's Disease?
What type of genetic mutation is associated with Huntington's Disease?
What type of genetic mutation is associated with Huntington's Disease?
What is the primary result of a nonsense mutation in a genetic sequence?
What is the primary result of a nonsense mutation in a genetic sequence?
Which of the following is an example of a copy number variation due to insertions?
Which of the following is an example of a copy number variation due to insertions?
What is a defining feature of a frameshift mutation?
What is a defining feature of a frameshift mutation?
Which category does an inversion in a chromosome fall under?
Which category does an inversion in a chromosome fall under?
Which type of genetic mutation is specifically characterized by a change that maintains similar chemical properties in the amino acid?
Which type of genetic mutation is specifically characterized by a change that maintains similar chemical properties in the amino acid?
What consequence can occur from a non-multiple of three nucleotides being deleted in a DNA sequence?
What consequence can occur from a non-multiple of three nucleotides being deleted in a DNA sequence?
Cystic Fibrosis is characterized by which of the following mechanisms caused by the CFTR gene mutation?
Cystic Fibrosis is characterized by which of the following mechanisms caused by the CFTR gene mutation?
What is the primary reason for the high prevalence of miscarriages associated with aneuploidy in pregnancies?
What is the primary reason for the high prevalence of miscarriages associated with aneuploidy in pregnancies?
Which chromosomal abnormality is characterized by a deletion occurring on the short arm of chromosome 5?
Which chromosomal abnormality is characterized by a deletion occurring on the short arm of chromosome 5?
In what way do sex chromosome abnormalities generally differ in severity compared to autosomal abnormalities?
In what way do sex chromosome abnormalities generally differ in severity compared to autosomal abnormalities?
Which trisomy syndrome is most commonly associated with advanced maternal age and has a higher likelihood of allowing live births?
Which trisomy syndrome is most commonly associated with advanced maternal age and has a higher likelihood of allowing live births?
What is a common outcome of mosaicism resulting from zygote nondisjunction during mitosis?
What is a common outcome of mosaicism resulting from zygote nondisjunction during mitosis?
What is the characteristic feature of autosomal dominant disorders?
What is the characteristic feature of autosomal dominant disorders?
Which of the following describes a de novo mutation?
Which of the following describes a de novo mutation?
What defines a heterozygous genotype concerning alleles?
What defines a heterozygous genotype concerning alleles?
What is the effect of environmental factors on acquired/somatic mutations?
What is the effect of environmental factors on acquired/somatic mutations?
In the context of eye color genetics, what does a genotype of 'BB' indicate?
In the context of eye color genetics, what does a genotype of 'BB' indicate?
Which of the following statements accurately describes recessive alleles?
Which of the following statements accurately describes recessive alleles?
For an autosomal recessive disorder to be expressed in an individual, which condition must be met?
For an autosomal recessive disorder to be expressed in an individual, which condition must be met?
Which type of mutation is primarily responsible for genetic variations in an individual's cells after conception?
Which type of mutation is primarily responsible for genetic variations in an individual's cells after conception?
What is the key inheritance pattern of sex-linked disorders?
What is the key inheritance pattern of sex-linked disorders?
At what age do symptoms of Huntington's Disease typically appear?
At what age do symptoms of Huntington's Disease typically appear?
Which symptom is NOT associated with Huntington's Disease?
Which symptom is NOT associated with Huntington's Disease?
Which gene is commonly associated with Huntington's Disease?
Which gene is commonly associated with Huntington's Disease?
What percentage chance does a child of a parent with Huntington's Disease have of inheriting it?
What percentage chance does a child of a parent with Huntington's Disease have of inheriting it?
Which symptom of Huntington's Disease is primarily physical?
Which symptom of Huntington's Disease is primarily physical?
What ethical consideration arises from genetic testing for Huntington's Disease?
What ethical consideration arises from genetic testing for Huntington's Disease?
What is a common misconception among families regarding hereditary conditions like Huntington's Disease?
What is a common misconception among families regarding hereditary conditions like Huntington's Disease?
Which of the following issues might complicate the decision for Carl to undergo testing for Huntington's Disease?
Which of the following issues might complicate the decision for Carl to undergo testing for Huntington's Disease?
What is the ultimate outcome of untreated Huntington's Disease?
What is the ultimate outcome of untreated Huntington's Disease?
What is the likelihood of a child being affected by an autosomal recessive disorder if both parents are carriers of the defective allele?
What is the likelihood of a child being affected by an autosomal recessive disorder if both parents are carriers of the defective allele?
Which statement is true regarding the inheritance pattern of X-linked recessive traits?
Which statement is true regarding the inheritance pattern of X-linked recessive traits?
What is a notable characteristic of the pedigree chart in familial inheritance?
What is a notable characteristic of the pedigree chart in familial inheritance?
Which of the following correctly describes the role of colchicine in the karyotyping procedure?
Which of the following correctly describes the role of colchicine in the karyotyping procedure?
What genetic characteristic contributes to the higher prevalence of color blindness in males compared to females?
What genetic characteristic contributes to the higher prevalence of color blindness in males compared to females?
What is the primary purpose of G-banding in karyotyping?
What is the primary purpose of G-banding in karyotyping?
What is an implication of the mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene?
What is an implication of the mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene?
Which of the following statements best describes karyotyping?
Which of the following statements best describes karyotyping?
What is a common symptom associated with autosomal recessive disorders like cystic fibrosis?
What is a common symptom associated with autosomal recessive disorders like cystic fibrosis?
Which of the following best explains the relationship between close intermarriages and autosomal recessive disorders?
Which of the following best explains the relationship between close intermarriages and autosomal recessive disorders?
Flashcards
Point Mutation
Point Mutation
A change in a single DNA base pair.
Copy Number Variations
Copy Number Variations
Changes in the number of copies of a DNA segment.
Frameshift Mutation
Frameshift Mutation
An insertion or deletion of DNA bases that alters the reading frame of the gene.
Chromosome Abnormality
Chromosome Abnormality
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Down Syndrome
Down Syndrome
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Nondisjunction
Nondisjunction
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MYC gene duplication
MYC gene duplication
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De novo mutation
De novo mutation
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Acquired/somatic mutation
Acquired/somatic mutation
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Allele
Allele
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Homozygous
Homozygous
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Heterozygous
Heterozygous
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Dominant allele
Dominant allele
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Recessive allele
Recessive allele
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Autosomal Dominant
Autosomal Dominant
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Genotype
Genotype
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Charcot-Marie-Tooth (CMT) Disease
Charcot-Marie-Tooth (CMT) Disease
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Chromosome Translocation
Chromosome Translocation
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Balanced Translocation
Balanced Translocation
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Unbalanced Translocation
Unbalanced Translocation
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Philadelphia Chromosome
Philadelphia Chromosome
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Autosomal Recessive Disorder
Autosomal Recessive Disorder
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Carrier (Autosomal Recessive)
Carrier (Autosomal Recessive)
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Cystic Fibrosis
Cystic Fibrosis
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X-linked Recessive Disorder
X-linked Recessive Disorder
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Colour Blindness
Colour Blindness
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Multi-Gene Disorder
Multi-Gene Disorder
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Pedigree Chart
Pedigree Chart
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Karyotype
Karyotype
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G-banding
G-banding
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Gamete Nondisjunction
Gamete Nondisjunction
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Trisomy
Trisomy
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Monosomy
Monosomy
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Aneuploidy
Aneuploidy
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Patau Syndrome
Patau Syndrome
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Edwards Syndrome
Edwards Syndrome
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Klinefelter's Syndrome
Klinefelter's Syndrome
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Turner's Syndrome
Turner's Syndrome
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Triple X Syndrome (Super-female)
Triple X Syndrome (Super-female)
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Missense Mutation
Missense Mutation
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Nonsense Mutation
Nonsense Mutation
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Copy Number Variation (CNV)
Copy Number Variation (CNV)
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Conservative Missense Mutation
Conservative Missense Mutation
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Trinucleotide Repeat Expansion
Trinucleotide Repeat Expansion
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Hereditary/Germline Mutation
Hereditary/Germline Mutation
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What are the two main categories of mutations?
What are the two main categories of mutations?
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What are the three types of inherited single gene disorders?
What are the three types of inherited single gene disorders?
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Autosomal Dominant disorder
Autosomal Dominant disorder
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What is gamete nondisjunction?
What is gamete nondisjunction?
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What happens when a germ cell with nondisjunction fertilizes an egg?
What happens when a germ cell with nondisjunction fertilizes an egg?
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What is the most common autosomal trisomy that results in live birth?
What is the most common autosomal trisomy that results in live birth?
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What is Klinefelter's Syndrome?
What is Klinefelter's Syndrome?
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What is Turner's Syndrome?
What is Turner's Syndrome?
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Huntington's Disease
Huntington's Disease
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CAG repeat expansion
CAG repeat expansion
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Symptoms of Huntington's Disease
Symptoms of Huntington's Disease
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Autosomal Dominant Inheritance
Autosomal Dominant Inheritance
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Huntington's Disease Onset
Huntington's Disease Onset
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Ethical Considerations of Genetic Testing
Ethical Considerations of Genetic Testing
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Prenatal Genetic Testing
Prenatal Genetic Testing
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Informed Consent for Genetic Testing
Informed Consent for Genetic Testing
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Genetic Counseling
Genetic Counseling
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Family History and Huntington's Disease
Family History and Huntington's Disease
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Indel
Indel
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Sickle Cell Anemia
Sickle Cell Anemia
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Autosomal Recessive Inheritance
Autosomal Recessive Inheritance
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X-linked Recessive Inheritance
X-linked Recessive Inheritance
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Familial Inheritance
Familial Inheritance
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Study Notes
HSS2305: Molecular Mechanisms of Disease
- Lecture 14 covers Genetics and Disease
- The outline for the lecture includes Announcements, Genetics and Disease.
- Genetic mutations are a permanent change in the DNA sequence.
- General categories of genetic mutations include:
- Single base pair or point mutation (substitution)
- Copy number variations (insertions and deletions, can result in frameshifts; duplication and repeat expansion)
- Chromosomal abnormalities (duplication, inversion, deletion, insertion, translocation, nondisjunction)
- Types of Single Base Pair Mutations:
- Missense mutation - results in a change in amino acid
- Nonsense (stop) mutation - results in a premature stop codon
- Silent mutation - no change in amino acid
- An example of a missense mutation is Sickle Cell disease, where a change in amino acid sequence leads to hemoglobin molecules crystallizing and red blood cells becoming sickle-shaped. This can cause the cells to get stuck in blood vessels.
- A nonsense mutation example is Cystic Fibrosis, where a change causes a protein that maintains the balance of salt and water in tissues, leading to thick mucus that results in persistent lung infections.
- Copy number variations include insertions and deletions causing frameshifts (shifts in the reading frame of codons), and duplication and repeat expansions.
- Chromosomal abnormalities involve structural changes like duplication, inversion, deletion, insertion, translocation, and nondisjunction.
- An example of an abnormality is Down Syndrome, caused by trisomy 21, where an extra chromosome 21 occurs due to nondisjunction.
- There are three types of mutations that occur:
- Hereditary/germline mutations
- De novo mutations
- Acquired/somatic mutations.
- An example of a single gene disorder is Huntington's Disease (HD), caused by an expansion of CAG repeats in the HTT gene. This leads to toxic protein aggregations and eventually cell death.
- Another example is Autosomal Recessive disorders like Cystic Fibrosis caused by mutations in the CFTR gene leading to abnormal salt and water balance, and resulting in respiratory complications.
- Sex-linked recessive disorders such as colourblindness occur on the X chromosome.
- Multi-gene disorders are caused by interactions of multiple genes and environmental factors, such as Diabetes or Allergies.
- There are several methods for diagnosing genetic diseases including amniocentesis or chorionic villus sampling.
- Gene therapy involves altering or inserting genes to treat disease, but there are various limitations including issues with the longevity of gene integration, immune responses, and multi-gene disorders.
- The next lecture covers cell signaling and G-coupled receptors.
Review of Genetics
- Each cell contains 2 meters of DNA, 25,000 protein-coding genes, 46 chromosomes including 44 autosomal and 2 sex chromosomes (X and/or Y).
- Alleles are alternative forms of a gene (e.g., B for brown eyes, b for blue eyes).
- Homozygous refers to having two identical alleles for a gene (BB or bb).
- Heterozygous means having two different alleles for a gene (Bb).
- A dominant allele always expresses its trait when present, while a recessive allele only expresses its trait when homozygous.
- Review of Inheritance.
- Karyotype is a characterization of chromosomes (shape, size, number).
- Karyotyping determines the presence or absence of chromosomal abnormality that are inherited or cause issues in becoming pregnant.
- A biological sample (like blood, amniotic fluid, placenta) is used to determine the details of the karyotype.
- Common methods for detecting chromosomal abnormalities include G-banding, and the steps taken for sample preparation for karyotyping.
Genetics and Disease: Chromosomal Abnormalities
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4 types of chromosomal abnormalities are presented:
-
- Chromosome abnormality,
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- Numerical chromosomal anomalies
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- Structural chromosomal anomalies,
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- Errors during cell division resulting in mosaics.
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Meiosis, a type of cell division in reproduction, is described; as are its stages.
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In meiosis, homologous chromosomes or sister chromatids fail to separate this is known as nondisjunction, with potentially harmful results and associated diagnoses.
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Various examples of nondisjunction are given, including Trisomy 21 (Down Syndrome), Trisomy 18 (Edwards Syndrome), Trisomy 13 (Patau Syndrome), and examples of sex chromosome nondisjunction like Klinefelter's Syndrome (XXY) and Turner's Syndrome (XO).
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There are also details about triple X Syndrome (47,XXX) and XYY syndrome (47,XYY)
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Different types of chromosomal abnormalities are discussed (deletions, duplication and translocation examples) including specific details and diagnoses.
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Description
This quiz focuses on Lecture 14 of HSS2305, which covers the crucial connection between genetics and disease. Students will explore various genetic mutations, including point mutations, copy number variations, and chromosomal abnormalities. The implications of these mutations, illustrated through examples like Sickle Cell disease, will be assessed.
