RPA genetics Flashcards

1
Q

CF carrier frequency

A

1/25

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2
Q

what does Male to Male transmission suggest

A
autosomal dominant
(or Y-linked)
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3
Q

Number of repeats in Huntington’s

A

<26 normal
>40 full penetrance
36-39 - reduced penetrance
27-35 - intermediate (may have expansion, especially from father)

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4
Q

moisaic vs chimera

A

moisaic is when 2 different genetic lines arise from the same individual
chimera is when 2 zygotes cell lines fuse

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5
Q

What is the genetic abnormality in Prader Willi syndrome

A

abnormality of chromosome 15
due to imprinting - the father’s copy is missing

(the mother’s copy missing is Angelman’s syndrome)

in the questions, the imprinted gene is the one that is switched off

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6
Q

mitochondrial inheritance

A

not mendalian - matrilineal
generally inherited from mother
essentially a mitrocondria has many copies of the mitochondria circular DNA with varying prevalence of a particular mutation. There is normally a threshold for phenotypic expression.

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7
Q

what is not likely to be picked up by DNA sequency

A

a large deletion

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8
Q

what is chomosome microarray good for

A

small deletions
CNVs
aneuploidy or unbalanced translocation

cannot detect: polyploidy, location of imbalance

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