Genics Flashcards

1
Q

What is autosomal dominant inheritance?

A

at least one parent carries the gene that is expressed.

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2
Q

What is autosomal recessive inheritance?

A

both parents carry gene that is being expressed.

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3
Q

X-link recessive inheritance affects who more?

A

-affects males mostly

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4
Q

X-link dominant affects who more?

A

females

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5
Q

Y-linked inheritance only affects?

A

males

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6
Q

Mitochondrial inheritance results from?

A

the maternal egg

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7
Q

What are SNPs?

A

single nucleotide polymorphisms

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8
Q

MTHFR is related to what nutrient?

A

folate

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9
Q

What happens with MTHFR?

A

affects methylation

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10
Q

What is methylation?

A

a chemical reaction where a methyl group gets added to DNA, proteins or other modules.

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11
Q

What is pharmacogenomics?

A

used to predict how a patient might respond to drug

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12
Q

What is epigenetic?

A

gene expression is controlled by epigenetic marks, which determines function or expression of the gene

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13
Q

What is mendelian inheritance?

A

track a mutation through family history

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14
Q

What is trisomy or down syndrome?

A

-chromosomal disorder
-determined karyotype
-addition of chromosome material to chromosomes 21

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15
Q

PKU results from?

A

-mutation in the gene coding for the enzymes phenylalanine hydroxylase
-can’t convert phenylalanine to tyrosine

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16
Q

Maple syrup urine disease can cause what?

A

seizures