Genetics

Question 1

If you have a sibling with CF (your ok) what are the chances you pass on CF

Answer 1

You have a 2/3 chance of being a carrier

Question 2

Cerebellar ataxia, telangiectasia, and increase pulm infections are the triad of

Answer 2

Ataxia telangiectasia

Question 3

Genetics of ataxia telangiectasia

Answer 3

AR

ATM gene - works in DNA break repair

Question 4

Immune issues of ataxia telangiectasia

Answer 4

Iga deficiency

Question 5

What is the most abundant amino acid in collagen

Answer 5

Glycine

Question 6

Where is the VHL mutation

Answer 6

Chromosome p3

Question 7

Where is the wt1 mutation

Answer 7

Chromosome 11

Question 8

Where is the RB gene

Answer 8

Chromosome 13

Question 9

What is the definition of herteroplasmy

Answer 9

Mitochondria inheritance

Can have bistable presentation (one kid worse disease than another)

Question 10

What is the defect in fragile x

Answer 10

CGG repeat expansion on X in FMR1 gene

Question 11

Exam findings of fragile X

Answer 11

Dysmorphic face

Large jaw, protruding ears, macroorchidism