Genetics Tests Flashcards

1
Q

What test do you use for DNA testing of chromosomes?

A

FISH (fluorescence in situ hybridization)

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2
Q

Test to consider in those with ID like seen in autism:

A

FMR-1 DNA test (fragile x )

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3
Q

Essential Tremor: how is it inherited?

A

Autosomal dominant.

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4
Q

MECP2

A

Rett Syndrome

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5
Q

Chromosome 15 dysfunction

A

Angelman Syndrome, inherited from the father

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6
Q

Val/Val and Val/Met genotypes for COMT (Val158Met)

A

More likely to have cannabis induced psychotic disorder

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7
Q

(5HTTLPR)

A

has been associated with an increased risk for nicotine dependence

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8
Q

G allele genotype (GG/AG) in the A118G SNP of OPRM1

A

has been associated with increased craving and excess mesocorticolimbic activation to alcohol use.

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9
Q

X-linked dominant (lethal in males) syndrome characterized by agenesis of the corpus callosum, developmental delay, and infantile spasms

A

Aicardi syndrome

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10
Q

Which chromosome is Frontotemporal dementia on?

A

FTDP-17 cases show neuronal and/or glial inclusions that stain positively with antibodies raised against the microtubule-associated protein tau (MAP-T). The MAP-T gene for encoding tau protein is located on chromosome 17q21

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11
Q

What chromosome linked with early onset alzheimer’s dz?

A

19

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