8/26/13

Question 1

Anticipation in genetics means

Answer 1

increasing of severity of disease in successive generations (associated with trinucleotide repeat diseases)

Question 2

Myotonic Dystrophy is an example of this type of non-mendelian genetics. Also what is repeated

Answer 2

triple repeat disorder, CTG in the 3’ UTR

Question 3

Normal CTG repeats

Answer 3

5-34

Question 4

Premutation CTG repeats

Answer 4

34-49

Question 5

Mild symptoms of myotonic dystrophy CTG repeats

Answer 5

50-150

Question 6

Classic symptoms of myotonic dystrophy CTG repeats

Answer 6

100-1000

Question 7

Cogenital symptoms of myotonic dystrophy CTG repeats

Answer 7

> 2000

Question 8

Trinucleotide repeat in Huntington’s Disease

Answer 8

CAG

Question 9

Huntington’s disease expands preferentially through (male/female) meiosis

Answer 9

male

Question 10

Normal, premutation, and affected levels of repeats for Huntington’s Disease

Answer 10

5-26, 27-41, 36-121

Question 11

Most common form of inherited mental retardation

Answer 11

Fragile X syndrome

Question 12

Trinulceotide repeat in fragile x syndrome, and expands exclusively through (male/female) meiosis

Answer 12

CGG, female

Question 13

Where does the CGG repeat occur in fragile X syndrome?

Answer 13

5’ UTR promoter region

Question 14

Normal, Premutation, abnormal repeat sizes for fragile X syndrome

Answer 14

> 50, 50-230, 230<

Question 15

What gene is expressed from the mother’s chromosome in Angelman’s syndrome

Answer 15

UBE3A (has to do with imprinting)

Question 16

What are the two syndromes that arise from error in imprinting on chromosome 15?

Answer 16

Prader-Willi, Angelman

Question 17

What gene is responsible for the initiation of the X chromosome inactivation

Answer 17

XIST gene

Question 18

Name two types of mitochondrial myopathies

Answer 18

MELAS, MERRF

Question 19

Mosaicism happens (mitotically/meiotically)

Answer 19

Mitotically