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Questions and Answers
Bipolar disorder, have found that many of the same ______ increase the risk for these conditions as well.
regions
These copy number variations (CNVs) cluster in specific ______ of the genome, identifying specific risk intervals.
regions
Studies of individuals ascertained by genotype (e.g., 16p11.2 deletions and ______) have found a wide variety of associated behavioral phenotypes.
duplications
The earliest reports using this approach showed that the de novo CNVs at chromosome 16p11.2, although present in only about 0.5% to 1% of affected individuals, carried substantial (greater than 10-fold) risk of ______ disorder.
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De novo submicroscopic deletions and duplications in chromosomal structure may dramatically increase an individual's risk for ______.
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This 'one-to-many' phenomenon presents important challenges to illuminating specific pathophysiological ______ in psychiatric illness and to conceptualizing the steps from gene discovery to therapies.
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Interestingly, although these CNVs carry large risks for autism spectrum disorder, studies of other psychiatric disorders, including ______.
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Subsequent studies have now identified a dozen or more de novo CNVs that carry risk, including at chromosomes 16p11.2, 1q21, 15q11-13, and 3q29; deletions at 22q11, 22q13 (deleting the gene SHANK3), and 2p16 (deleting the gene ______); and de novo duplications of 7911.23 (the Williams syndrome region).
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Children born just after the Dutch Hunger Winter famine of World War II had a greatly increased risk of ______ many years later.
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Schizophrenia causing a pattern of thought disorders and emotional ______ that profoundly impairs life.
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Study Notes
Genes and Behavior
- Bipolar disorder and other conditions share many of the same genetic risk regions, making it challenging to understand specific mechanisms and develop therapies.
Copy Number Variations (CNVs) and Autism Spectrum Disorder
- De novo submicroscopic deletions and duplications in chromosomal structure increase an individual's risk for autism spectrum disorder.
- These CNVs cluster in specific regions of the genome, identifying specific risk intervals.
- De novo CNVs at chromosome 16p11.2 carry a substantial (greater than 10-fold) risk of autism spectrum disorder.
- Other identified CNVs that carry risk include those at chromosomes 1q11.2, 1q21, 15q11-13, 3q29, 22q11, 22q13 (deleting the gene SHANK3), 2p16 (deleting the gene NXRN1), and de novo duplications of 7q11.23 (the Williams syndrome region).
Schizophrenia
- Schizophrenia is a thought disorder and emotional withdrawal that profoundly impairs life.
- It is strongly heritable (see Figure 2-1B) and also has a strong environmental component.
- Environmental factors, such as stress on a developing fetus, can increase the risk of schizophrenia.
- Examples of environmental factors associated with increased risk of schizophrenia include:
- Fetal development during the Dutch Hunger Winter famine of World War II.
- Maternal rubella virus infection during pregnancy in the 1960s pandemic.
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Description
Explore the relationship between genetics and behavior, including the impact of copy number variations on autism spectrum disorder and the genetic risks of bipolar disorder.
