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Questions and Answers
Which chromosome is associated with candidate regions for schizophrenia?
Which chromosome is associated with candidate regions for schizophrenia?
- Chromosome 1
- Chromosome 15
- Chromosome 14
- Chromosome 22 (correct)
What gene is associated with catecholamine synthesis in affective diseases?
What gene is associated with catecholamine synthesis in affective diseases?
- Tyrosine hydroxylase gene (correct)
- Angiotensinogen gene
- Insulin gene
- Rhinine gene
What is the most common cause of dementia cases in individuals over 65 years of age?
What is the most common cause of dementia cases in individuals over 65 years of age?
- Parkinson's disease
- Vascular dementia
- Alzheimer's disease (correct)
- Frontotemporal dementia
What is a genetic factor involved in hypertension?
What is a genetic factor involved in hypertension?
Which condition is characterized by mutations in different genes related to sarcoma proteins?
Which condition is characterized by mutations in different genes related to sarcoma proteins?
In coronary heart disease, which factor is NOT identified as a pathogenetic mechanism?
In coronary heart disease, which factor is NOT identified as a pathogenetic mechanism?
How does Alzheimer's disease progress in terms of clinical symptoms?
How does Alzheimer's disease progress in terms of clinical symptoms?
What inheritance pattern is associated with familial hypertrophic cardiomyopathy?
What inheritance pattern is associated with familial hypertrophic cardiomyopathy?
What is a common clinical feature associated with Turner syndrome?
What is a common clinical feature associated with Turner syndrome?
Which chromosomal composition is associated with Turner syndrome?
Which chromosomal composition is associated with Turner syndrome?
Which of the following is a potential dental issue associated with certain chromosomal diseases?
Which of the following is a potential dental issue associated with certain chromosomal diseases?
What condition features a female phenotype with a male karyotype, specifically a mutation in the testosterone receptor?
What condition features a female phenotype with a male karyotype, specifically a mutation in the testosterone receptor?
Inherited chromosomal diseases can be classified according to which of the following principles?
Inherited chromosomal diseases can be classified according to which of the following principles?
What is a notable feature of Down syndrome?
What is a notable feature of Down syndrome?
What is the population frequency for Turner syndrome?
What is the population frequency for Turner syndrome?
What distinguishes the full form from the mosaic form of chromosomal diseases?
What distinguishes the full form from the mosaic form of chromosomal diseases?
When do full chromosomal aberrations typically occur?
When do full chromosomal aberrations typically occur?
How does the clinical manifestation of Polysomy X change with the number of X chromosomes?
How does the clinical manifestation of Polysomy X change with the number of X chromosomes?
What is the frequency range of Down syndrome occurrence?
What is the frequency range of Down syndrome occurrence?
Which factor affects the genetic risk of chromosomal diseases in the family?
Which factor affects the genetic risk of chromosomal diseases in the family?
Which characteristic is typical of mosaic chromosomal diseases?
Which characteristic is typical of mosaic chromosomal diseases?
Which statement best describes genomic imprinting?
Which statement best describes genomic imprinting?
Which of the following is a type of chromosomal aberration that may lead to chromosomal diseases?
Which of the following is a type of chromosomal aberration that may lead to chromosomal diseases?
Numerical chromosomal aberrations can include which of the following?
Numerical chromosomal aberrations can include which of the following?
What can be said about the genetic component in polygenic diseases?
What can be said about the genetic component in polygenic diseases?
Which of the following diseases is characterized by a multifactorial basis where genetic and exogenous factors intertwine?
Which of the following diseases is characterized by a multifactorial basis where genetic and exogenous factors intertwine?
What distinction exists between the risk of schizophrenia in first-degree relatives compared to the general population?
What distinction exists between the risk of schizophrenia in first-degree relatives compared to the general population?
Which of the following genes is NOT considered a candidate gene for schizophrenia?
Which of the following genes is NOT considered a candidate gene for schizophrenia?
How does the frequency of schizophrenia in monozygotic twins compare to dizygotic twins?
How does the frequency of schizophrenia in monozygotic twins compare to dizygotic twins?
What is the role of dopamine in relation to Parkinson's disease?
What is the role of dopamine in relation to Parkinson's disease?
Which statement best describes the inheritance pattern of schizophrenia?
Which statement best describes the inheritance pattern of schizophrenia?
What unique recognition did Arvid Carlson receive for his work related to dopamine?
What unique recognition did Arvid Carlson receive for his work related to dopamine?
What is a common physical characteristic associated with Prader-Willi Syndrome?
What is a common physical characteristic associated with Prader-Willi Syndrome?
Which genetic alteration is most frequently associated with Angelman Syndrome?
Which genetic alteration is most frequently associated with Angelman Syndrome?
Which of the following is a symptom of Williams Syndrome?
Which of the following is a symptom of Williams Syndrome?
What type of behavioral issue is commonly observed in individuals with Prader-Willi Syndrome?
What type of behavioral issue is commonly observed in individuals with Prader-Willi Syndrome?
What is a potential cause of cardiovascular disease in individuals with Williams Syndrome?
What is a potential cause of cardiovascular disease in individuals with Williams Syndrome?
Which syndrome is characterized by severe absence in physical development and hypopigmentation?
Which syndrome is characterized by severe absence in physical development and hypopigmentation?
What type of chromosomal alteration is most often found in Angelman Syndrome?
What type of chromosomal alteration is most often found in Angelman Syndrome?
What percentage of Angelman Syndrome cases result from maternal chromosome deletion?
What percentage of Angelman Syndrome cases result from maternal chromosome deletion?
What is the most common cause of Partial monosomy 18q-?
What is the most common cause of Partial monosomy 18q-?
Which symptom is NOT associated with Patau syndrome?
Which symptom is NOT associated with Patau syndrome?
What is a common symptom of Cri-du-chat syndrome?
What is a common symptom of Cri-du-chat syndrome?
What chromosomal alteration leads to Wolf-Hirschhorn syndrome?
What chromosomal alteration leads to Wolf-Hirschhorn syndrome?
What is the frequency of Patau syndrome in live births?
What is the frequency of Patau syndrome in live births?
Which of the following is a common physical characteristic of patients with Cri-du-chat syndrome?
Which of the following is a common physical characteristic of patients with Cri-du-chat syndrome?
What is the typical outcome for children born with Patau syndrome?
What is the typical outcome for children born with Patau syndrome?
Syndrome Wolf-Hirschhorn can arise from what type of chromosomal alteration?
Syndrome Wolf-Hirschhorn can arise from what type of chromosomal alteration?
Flashcards
Multifactorial diseases
Multifactorial diseases
Diseases caused by the combined effects of multiple genes and environmental factors.
Polygenic disease
Polygenic disease
A disease caused by multiple genes, each having a small effect.
Disease with a multifactorial basis
Disease with a multifactorial basis
A disease with a genetic component, but not directly inherited in a Mendelian pattern.
Non-Mendelian inheritance
Non-Mendelian inheritance
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Dopamine
Dopamine
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Dopamine receptor gene
Dopamine receptor gene
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Schizophrenia
Schizophrenia
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Familial schizophrenia
Familial schizophrenia
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Affective Diseases
Affective Diseases
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Tyrosine Hydroxylase gene
Tyrosine Hydroxylase gene
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Alzheimer's Disease
Alzheimer's Disease
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Hypertension
Hypertension
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Familial Hypertrophic Cardiomyopathy
Familial Hypertrophic Cardiomyopathy
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Coronary Heart Disease
Coronary Heart Disease
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Angiotensinogen gene
Angiotensinogen gene
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Full form chromosomal disease
Full form chromosomal disease
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Mosaic form chromosomal disease
Mosaic form chromosomal disease
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Monosomy
Monosomy
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Trisomy
Trisomy
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Genomic imprinting
Genomic imprinting
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Chromosomal disease
Chromosomal disease
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Karyotype
Karyotype
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Structural chromosomal aberration
Structural chromosomal aberration
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Turner Syndrome
Turner Syndrome
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Polysomy X
Polysomy X
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Morris Syndrome
Morris Syndrome
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Down syndrome
Down syndrome
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Prader-Willi Syndrome
Prader-Willi Syndrome
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Interstitial Microdeletion del(15)(q11-q13)
Interstitial Microdeletion del(15)(q11-q13)
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Uniparental Disomy
Uniparental Disomy
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Angelman Syndrome (Happy Puppet Syndrome)
Angelman Syndrome (Happy Puppet Syndrome)
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Interstitial Microdeletion del(15)(q11-q13)
Interstitial Microdeletion del(15)(q11-q13)
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Williams Syndrome
Williams Syndrome
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Deletion q11.23 on chromosome 7
Deletion q11.23 on chromosome 7
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Prader-Willi Syndrome
Prader-Willi Syndrome
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Partial monosomy 18q-
Partial monosomy 18q-
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What is Patau syndrome?
What is Patau syndrome?
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Describe Cri-du-chat syndrome
Describe Cri-du-chat syndrome
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What is Wolf-Hirschhorn syndrome?
What is Wolf-Hirschhorn syndrome?
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What causes Wolf-Hirschhorn Syndrome?
What causes Wolf-Hirschhorn Syndrome?
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What are the characteristics of Partial Monosomy 18q-
What are the characteristics of Partial Monosomy 18q-
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What are the clinical features of Cri-du-chat Syndrome?
What are the clinical features of Cri-du-chat Syndrome?
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What are the clinical features of Patau syndrome?
What are the clinical features of Patau syndrome?
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Study Notes
Polygenic Diseases
- Multifactorial diseases result from complex interactions of genetic and exogenous factors at various levels.
- The genetic component can involve a single gene predisposing to a multifactorial disease, a few mutated genes causing oligogenic disease, or numerous mutated genes in polygenic diseases.
- Examples include schizophrenia, affective disorders, Alzheimer's disease, hypertension, coronary heart disease, familial hypertrophic cardiomyopathy, and bronchial asthma.
Schizophrenia
- Multifactorial with intertwined genetic and exogenous factors.
- Familial risk is higher in first-generation (10%) and second-generation (3%).
- Adopted children's frequency is higher in those related to the sick person.
- Frequency higher in monozygotic than dizygotic twins.
- Doesn't follow Mendelian inheritance.
- Candidate genes include dopamine receptor, dopamine transporter, amyloid precursor, glutamate receptor, tyrosine dehydrogenase, serotonin receptor, and 5-hydroxytryptamine receptor genes.
- Dopamine (3,4-dihydroxy-β-phenylethylamine) is a catecholamine. It functions as a neurotransmitter, produced by neurons in substantia nigra, and leads to norepinephrine and epinephrine.
- Candidate regions are on chromosome 22 (Xp21, Xq11.2-q12, 15q21, 15q23-q24, 21q22.1-q22.2, DXYS1 locus).
Affective Diseases
- Multifactorial, divided into manic-depressive (bipolar), psychosis, and depressive psychoses.
- Associated with the candidate gene for tyrosine hydroxylase.
- Alternative splicing produces four different mRNAs with protein synthesis differences in brain regions.
- Localized to chromosome 11 adjacent to the insulin gene.
Alzheimer's Disease
- The most common cause of dementia in adults over 65 (60-80% of cases).
- Clinically characterized by senile dementia, progressing for 4-12 years, ending in death.
- Inheritance can be AD in some families, and not specified in others.
- Down syndrome patients display Alzheimer's-typical brain changes.
- Genes associated are located on chromosome 21, 14, and 1.
Hypertension
- Multifactorial disease involving both genetic and exogenous factors.
- Candidate genes include the rhinine gene, angiotensinogen gene, and genes functioning in the endothelium.
Coronary Heart Disease
- Underlying pathogenetic mechanisms related to lipoprotein transport, metabolism, or structure in cholesterol, hypertension, thrombogenesis, thrombolysis, fibrinolysis, impaired blood flow due to atherosclerotic plaques, and regulatory/congenital anomalies.
Familial Hypertrophic Cardiomyopathy
- Polygenic and heterogeneous.
- Caused by mutations in various genes.
- Genetic products are sarcoma proteins.
- Characterized by asymptomatic forms, syncope, myocardial ischemia, heart failure, and sudden death—most common cardiac cause of death under 35.
- Genetic risk is 50% for offspring in AD inheritance—children may have a more severe clinical picture than parents.
Bronchial Asthma
- Common heterogeneous disease in childhood.
- Allergic/atopic type is the most common, characterized by IgE reaction to inhaled protein allergens.
- Often accompanies familial accumulation of allergic manifestations like seasonal rhinitis and childhood eczema.
- Over 20 candidate genes have been identified.
Diseases Associated with Somatic Mutations
- Somatic cell mutations disrupt DNA structure and function at a rate of 10⁻⁶ per gene/cell.
- Mutations are usually not phenotypically significant, but under specific conditions, such as dividing embryonic cells, they can lead to cellular proliferation forming faster-growing cancer clones.
- Chromosomal mosaicism involves post-zygotic mutations resulting in multiple genetically distinct cell lines.
- Gonadal mosaicism includes healthy parents with children with AD (autosomal dominant) disease.
Chromosomal Diseases (Etiology and Classification)
- Caused by chromosomal mutations impacting chromosome numbers or structure (structural aberrations).
- Clinical symptoms arise from changes in hereditary material (surplus or loss).
- Classification: inherited/non-inherited chromosomal diseases, full/polar forms based on mutation occurrence time, and chromosomal aberrations located on autosomes or sex chromosomes.
- Includes monosomy and trisomy
Peculiarities of Inherited Chromosomal Diseases
- First Case: Normal karyotype in parents; full form—numerical chromosomal aberration.
- Second Case: Normal karyotype in parents; mosaic form—either numerical or unbalanced structural chromosomal aberration.
- Mutation Timing: gametogenesis or embryogenesis.
- Disease Manifestations: vary based on mutation time and location, as well as maternal/parental age.
- Recurrence Risk: depends on the mother's age in some chromosomal diseases.
Differences Between Full and Mosaic Forms of Chromosomal Diseases
- Full Form: Normal parent karyotype, all cells share chromosomal aberration; full clinical manifestation.
- Mosaic Form: Normal parent karyotype, only some cells have chromosomal aberration; partial clinical manifestation.
Genomic Imprinting
- Sex-linked expression of only one allele (maternal or paternal) of a single genetic locus.
- Gene activity relies on cytosine methylation in CG-rich gene regulatory regions.
- Genes are active in hypomethylation and inactive in hypermethylation.
- Genetic imprinting involves methylation of one allele within the allelic pair, determining parental inheritance characteristics.
Chromosomal Diseases in Structural or Numerical Aberrations of Sex Chromosomes:
- Klinefelter syndrome (47, XXY): Due to an extra X chromosome, affecting males; common symptoms include hypogonadism (reduced testes), infertility & possible gynecomastia, & tall stature.
- Superman syndrome (47, XYY): Presents with extra Y chromosome, with no significant specific symptoms.
- 46, XX in males: Shows phenotypic abnormalities like short stature.
- Turner syndrome (45, X): Results from missing/partially missing X chromosome in females. Common symptoms include short stature, ovarian dysgenesis (failure of the ovaries), and other somatic abnormalities.
- Polysomy X (47, XXX; 48, XXXX; 49, XXXXX): Multiple X chromosomes, with increasing symptoms as the number of X chromosomes rises. Examples include hypertelorism, and possible cognitive delays.
- Morris syndrome (46, XY): Genetically male presenting with female phenotype. A mutation of the TFM testosterone receptor gene.
Chromosomal Diseases in Structural or Numerical Aberrations of Autosomes:
- Down syndrome (Trisomy 21): Caused by an extra copy of chromosome 21. Symptoms include mental retardation, congenital heart disease, facial features, and physical characteristics.
- Edwards syndrome (Trisomy 18): Caused by an extra copy of chromosome 18. Presentation includes severe mental and physical abnormalities, and high chance of early death.
- Cri du Chat syndrome (5p-): Deletion of part of chromosome 5. Symptoms include infant cry that sounds like a cat's meow, microcephaly, low birth weight & muscular hypotonia.
- Patau syndrome (Trisomy 13): An extra 13th chromosome. Symptoms include severe facial abnormalities, major organ defects, and high infant mortality.
- Partial monosomy 18q-: Deletion in chromosome 18, displaying mental issues, facial features and other severe symptoms.
- Prader-Willi syndrome: Microdeletion on chromosome 15, and presents with unique characteristics. Examples include mental retardation, physical disabilities and unique appearance.
- Angelman syndrome: Microdeletion on chromosome 15 (maternal), and presents with unique characteristics. Examples include absence of psychomotor development, behavioral issues, and cognitive abnormalities.
- Williams syndrome: Deletion on the 7th chromosome, presenting with unique characteristics like facial traits and potentially cardiovascular or connective tissue-related issues.
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