Lecture 6 - Unstable Repeat Expansions 2 Flashcards

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1
Q

myotonic dystrophy:
repeat of _____;
repeats located in.. 3’ or 5’ region? translated or untranslated?

A

CTG;

3’ untranslated

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2
Q

myotonic dystrophy:
eyes = _____,
testicular ____;
can’t ____ muscle

A

cataracts, atrophy, relax

mask like face due to muscle wasting

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3
Q

myotonic dystrophy:
gene affected?
mutant ____ accumulates in foci in the ____

A

DM protein kinase (DMPK);
RNA, nucleus

affects processing of other gene RNA

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4
Q

myotonic dystrophy:

severe forms come from ____ transmission. the largest expansions happen during _____ gametogenesis

A

maternal;

female

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5
Q

myotonic dystropphy:

other genes have involvement. thus, data supports a ____-Dominant RNA gain of negative function, aka called ____ RNA

A

trans;

toxic

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6
Q

molecular diagnosis of myotonic dystrophy:

____ PCR, followed by ____ to confirm size expansion

A

triplet-primed;
southern-blot;

see ppt

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7
Q

friedreich ataxia (FA):
___ _____ disease (inheritance);
due to repeat of ____;
repeat is in a (exon or intron?)

A

autosomal recessive;
GAA (think GAAit);
intron

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8
Q

FA:
gene that is mutated?
causes a ____ in gene expression;
the protein normally produced binds what?

A

Frataxin;
reduction/decrease;
iron

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9
Q

FA:
____ gait, frequent ____, nystagmus, dys____, ____ (endocrine disorder);
cause of death usually =

A

staggering, falling;
arthria;

diabetes mellitus;

hypertrophic cardiomyopathy

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10
Q

FA:

example of an expanded ____ ____ Tract

A

poly amino-acid

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11
Q

Huntington disease (HD):
____ ____ inheritance;
due to repeat of ____ on chromosome ____;

A

autosomal dominant;

CAG, 4

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12
Q

HD:
gene involved = ____;
in translating or untranslating region?
causes ____ tract in the protein.

A

HTT (huntington);
translating
polyglutamine

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13
Q

HD:
normal number of repeats is less than _____;
____ or more means the patient will develop the disease

A

27 (ie 26 or less);
40

36-39 = may develop symptoms

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14
Q

HD: repeats tend to expand more when transmitted by _____;

most of juvenile cases are transmitted by the _____

A

males, father

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15
Q

____ expansions are seen in diseases such as synpolydactyly. the expansions usually occur in _____ ____

A

poly-alanine (ie GCx);

transcription factors

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