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27 Cards in this Set
- Front
- Back
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What is the difference between congenital and heritable
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Congenital is seen at birth.
Heritable is seen later on in life. |
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What is penetrance and what does it explain?
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Frequency of expression of a genetic trait in individuals carrying the responsible gene.
Differences among MZ twins. |
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Chromosomal abnormalities. x3
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1. Nondisjunction
2. Deletion 3. Translocation |
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Gene abnormalities. x4
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1. Mutation
2. Deletion 3. Insertion 4. Inversion |
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What are the goals of genetic investigation in Psychiatry. x4
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1. Specify genetic etiology
2. Specify non-genetic etiology 3. Validate boundaries 4. Develop methods of prevention and treatment. |
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What is an Adoptee study?
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Study of children of disordered parent raised in a normal adoptive family.
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What is a Cross-fostering study?
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Children from a normal background reared in a family with a disordered parent.
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What is an Adoptee family method study?
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The study of adoptive and biological relatives of disordered adoptees.
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What is concordance rate?
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Frequency of sharing a trait between relatives.
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If a disorder is familial, what would you see in the concordance rate?
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Higher risk of disease in first-degree relatives
No discrimination between environment vs genetic influence. |
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If environment is main determinant of a disorder, what would you see in the concordance rate?
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Equal risk between MZ and DZ twins.
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If genetic factors dominate, what would you see i the concordance rate?
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MZ twin should have significantly higher risk than DZ twin.
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In general, what can be said about the mode of transmission of a psychiatric disease?
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Multifactorial
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What is the gene affected in Huntingon's?
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Huntingtin
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What is the mode of transmission of Huntington's?
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AD
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What is the gene affected in Lesch-Nyhan's?
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HGPRT (purine synthesis)
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What is the mode of transmission for Lesch-Nyhan's?
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X-linked
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Describe the cosegregation of schizophrenia with bipolar disorder, anxiety disorder, and drug abuse. What does this prove?
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No cosegregation in families.
Thus supports genetic component of schizophrenia. |
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What is the mode of inheritance of Schizophrenia?
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Unclear, probably polygenic.
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Predisposing genes of Schizophrenia. x3
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1. Catechol-O-methyltransferase (COMT)
2. Mutation at residue 108 (Val-Met) 3. Simple mutations associated with efficiency of prefrontal cortical response. |
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According to genome scans, the locus of schizophrenia is where on DNA?
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22q11
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Major Depression & Bipolar:
- Mode of transmission? - MZ vs. DZ |
No clear genetic linkage.
Could be familial. MZ has higher risk |
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Prevalence for Depression
ADD Substance abuse Anxiety disorder Social functioning disorder - mode of transmission |
No genetic linkage
Likely a complex multifactorial |
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What serum is decreased in depressed patients?
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BDNF
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What gene confers susceptibility to bipolar disorder?
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BDNF gene
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What disorder has 0% concordance rate among DZ twins.
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Panic disorder
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Describe the genetic evidence of the following:
- Somatoform/sociopathy - Personality traits - Alcoholism - Tourette's syndrome |
Weak genetic evidence
Weak genetic evidence Strong familial Strong familial |
