Trinucleotide Repeats Flashcards Preview

M2M Unit II > Trinucleotide Repeats > Flashcards

Flashcards in Trinucleotide Repeats Deck (19):
1

What is the gene in Myotonic Dystrophy type 1? What chromosome?

DMPK, 19

1

More than ____ CTG repeats indicates full penetrance.

50

2

What is the repeat seen in Huntington Disease?

CAG

3

If you have ____ CAG repeats, you are normal. If you have between _______, you are intermediate. Full penetrance is seen after ______ repeats.

less than 27; 27-39; 39 or more

4

What is the incidence rate of Huntington Disease?

1:10,000

4

Myotonic Dystrophy type 1 incidence rate?

1:20,000

6

Name 2 trinucleotide repeat diseases.

1) Huntington Disease 2) fragile X

7

Myotonic Dystrophy type 1 is _______ biased.

maternally

9

trinucleotide repeat

expansion of a DNA segment of 3+ nucleotides over and over again

10

anticipation

get worse in successive generations (more repeats or earlier onset)

10

What is the transmission bias in Huntington Disease?

paternal

11

What are the clinical manifestations of Myotonic Dystrophy type 1?

myotonia, cataracts, progressive muscular wasting

12

Name diseases that shows anticipation.

Huntington Disease, Myotonic Dystrophy type 1

13

myotonia

muscles can't release

15

What is the gene and protein in Huntington Disease? Where is it located?

HTT; Huntingtin; chromosome 4

16

parental transmission bias

may be linked to paternal or maternal transmission

17

Myotonic Dystrophy type 1 is a trinucleotide repeat disorder with increased _____ repeats.

CTG

18

What are the clinical manifestations of Huntington Disease?

normal until progressive neuronal degeneration begins around age 35, death w/i 15 years, chorea

19

slipped mispairing

mispairing of bases coupled with inadequate DNA repair