RPA genetics Flashcards
CF carrier frequency
1/25
what does Male to Male transmission suggest
autosomal dominant (or Y-linked)
Number of repeats in Huntington’s
<26 normal
>40 full penetrance
36-39 - reduced penetrance
27-35 - intermediate (may have expansion, especially from father)
moisaic vs chimera
moisaic is when 2 different genetic lines arise from the same individual
chimera is when 2 zygotes cell lines fuse
What is the genetic abnormality in Prader Willi syndrome
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
mitochondrial inheritance
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.
what is not likely to be picked up by DNA sequency
a large deletion
what is chomosome microarray good for
small deletions
CNVs
aneuploidy or unbalanced translocation
cannot detect: polyploidy, location of imbalance