GENETICS Flashcards

1
Q

Epigenetic modification leading to gene expression?

A

Acetylation of histones

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2
Q

Phenotype amplification refers to?

A

An interaction of a particularly vulnerable genetic background with risk-conferring environmental factors.

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3
Q

Ordering genetic testing for

pharmacodynamic factors with medication is promising for?

A

Identifying risk for rare idiosyncratic

adverse effects

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4
Q

Challenge of using pharmacogenetics in child & adolescent pharmacology?

A

Small effect sizes of genes related to psychiatric conditions

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5
Q

Genetic principle explaining why Fragile X syndrome gets worse in future generations?

A

Anticipation

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6
Q

Genetic tests for triplet nucleotide repeats or methylation abnormalities?

A

FISH

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7
Q

Epigenetic regulation can occur through methylation or?

A

Histone acetylation

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8
Q

Mapping disease susceptibility genes in a population by identifying two loci in close proximity is?

A

Linkage disequilibrium

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9
Q

Approach used in searching for genetic variants for early-onset psychosis with DNA samples from a large group of children. Genotypes determined on thousands of SNPs for each sample and data analyzed to find loci that are affected at significant frequency in affected children without psychosis.

A

Genome-wide association study

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10
Q

Linkage analysis is used to?

A

Locate a susceptibility gene for a mental illness on a given chromosome

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11
Q

What regulatory mechanism is best

example of epigenetics?

A

X chromosome inactivation

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12
Q

Multiple studies indicate maternal stress during pregnancy leads to risk of psychiatric illness in offspring through DNA methylation of glucocorticoid genes in what location?

A

Placenta

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13
Q

What is assessed in Chromosomal
microarray analysis testing in children
diagnosed with Autism?

A

deletions or duplications of sections of DNA

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14
Q

Child gets up from prone position with
hands, now becoming progressively
weaker, with MRI showing symmetric basal ganglia lesions. Diagnosis?

A

Mitochondrial Disorder

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15
Q

What happens during gene imprinting?

A

Genes of paternal or maternal origin are silenced

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