meiosis and autosomal abnormalities Flashcards
what is the point of meiosis?
to reduce the chromosome number from 46 to 23
what is the gene content of the G bright spots?
they are AT rich and are rich in transcribed genes.
which sex has the more frequent nondisjunction in Meiosis 1?what do you produce from nondisjunction in meiosis 1?
nondisjunction in meiosis 1 is most frequent in females. You produce 2 disomic gametes and 2 nullisomic gametes
non disjunction in meiosis 2 happens most in which sex and what is the product you get?
happens most in men. you get 2 normal monosomic gametes, 1 disomic gamete and 1 nullisonic gamete
differentiate meosis i males vs. females
a
how do you tell where the nondisjunction happened looking at the chromosome of the child?
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
uniparental disomy can cause what effects?
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.
what are some physical findings in trisomy 21?
almond eyes, depressed nasal bridge brushfield spots, round head shape
if you have time, look at the tests you will do on people of different ethnic origins
what are some procedures you can dofor prenatal diognosis?
amnioscentesis, chronic villous sampling and percutaneous umbillical blood sampling