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M2M Unit II > Trinucleotide Repeats > Flashcards

Trinucleotide Repeats Flashcards

1
Q

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

A

DMPK, 19

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1
Q

More than ____ CTG repeats indicates full penetrance.

A

50

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2
Q

What is the repeat seen in Huntington Disease?

A

CAG

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3
Q

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

A

less than 27; 27-39; 39 or more

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4
Q

What is the incidence rate of Huntington Disease?

A

1:10,000

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4
Q

Myotonic Dystrophy type 1 incidence rate?

A

1:20,000

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6
Q

Name 2 trinucleotide repeat diseases.

A

1) Huntington Disease 2) fragile X

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7
Q

Myotonic Dystrophy type 1 is _______ biased.

A

maternally

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9
Q

trinucleotide repeat

A

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

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10
Q

anticipation

A

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

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10
Q

What is the transmission bias in Huntington Disease?

A

paternal

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11
Q

What are the clinical manifestations of Myotonic Dystrophy type 1?

A

myotonia, cataracts, progressive muscular wasting

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12
Q

Name diseases that shows anticipation.

A

Huntington Disease, Myotonic Dystrophy type 1

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13
Q

myotonia

A

muscles can’t release

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15
Q

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

A

HTT; Huntingtin; chromosome 4

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16
Q

parental transmission bias

A

may be linked to paternal or maternal transmission

17
Q

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

A

CTG

18
Q

What are the clinical manifestations of Huntington Disease?

A

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

19
Q

slipped mispairing

A

mispairing of bases coupled with inadequate DNA repair

M2M Unit II (21 decks)

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