Genes Flashcards

0
Q

Muscular dystrophy

A

Dystrophin gene

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1
Q

Guardian of the genome

A

p53

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2
Q

Marfan’s syndrome

A

Fibrillin

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3
Q

Alzheimer’s disease

A

Presenilin gene

Apolipoprotein E4

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4
Q

Presenilin gene

A

Alzheimer’s disease

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5
Q

Protein in the amyloid plaque

A

TAU protein

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6
Q

Alzheimer’s disease findings in the brain

A
Neurofibrillary tangles
Amyloid plaques (TAU protein)
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7
Q

Parkinson’s disease

A

Parkin gene

Alpha-synuclein

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8
Q

Dystonia of Panay (XDP)

A

DYT3 gene

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9
Q

Trisomy 18

A

Edward’s syndrome

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10
Q

Trisomy 13

A

Patau

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11
Q

Huntington’s disease

A

Huntingtin gene

Chromosome 4
Triple CAG

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12
Q

Chromosome 5

A

Cri-du-chat

FAP

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13
Q

Chromosome 17

A

Von Recklinghausen’s disease

Long arm

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