meiosis and autosomal abnormalities Flashcards

1
Q

what is the point of meiosis?

A

to reduce the chromosome number from 46 to 23

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2
Q

what is the gene content of the G bright spots?

A

they are AT rich and are rich in transcribed genes.

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3
Q

which sex has the more frequent nondisjunction in Meiosis 1?what do you produce from nondisjunction in meiosis 1?

A

nondisjunction in meiosis 1 is most frequent in females. You produce 2 disomic gametes and 2 nullisomic gametes

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4
Q

non disjunction in meiosis 2 happens most in which sex and what is the product you get?

A

happens most in men. you get 2 normal monosomic gametes, 1 disomic gamete and 1 nullisonic gamete

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5
Q

differentiate meosis i males vs. females

A

a

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6
Q

how do you tell where the nondisjunction happened looking at the chromosome of the child?

A

if you look at the CA repeats near or at the centromere you can judge. if the CA repeats are the same then the nondisjunction happened during meiosis 2 because at that point you have identical sister chromatids that split up but if the nondisjunction happened in meiosis 1 then you the CA repeats should be different because the homologous chromosomes are different

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7
Q

uniparental disomy can cause what effects?

A

can cause mosaisizm as well as the passing of autosomal recessive traits from a heteozygote and homozygous dominant breed. it can also be the case when a father passes an X linked trait to their son.

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8
Q

what are some physical findings in trisomy 21?

A

almond eyes, depressed nasal bridge brushfield spots, round head shape

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9
Q

if you have time, look at the tests you will do on people of different ethnic origins

A
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10
Q

what are some procedures you can dofor prenatal diognosis?

A

amnioscentesis, chronic villous sampling and percutaneous umbillical blood sampling

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