Biology 1B > Point Mutations > Flashcards

Point Mutations Flashcards

(10 cards)

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1
Q

DJ1

A

Early onset Parkinson’s

Chromosome 1

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2
Q

BMND3

A

Bone density

Chromosome 1

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3
Q

GORAB

A

Chromosome 1

Geroderma osteodysplasticum

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4
Q

NRCLP3

A

Narcolepsy

Chromosome 21

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5
Q

RUNX1

A

Leukaemia

Chromosome 21

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6
Q

KCNE2

A

Long QT syndrome (sudden heart failure)

Chromosome 21

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7
Q

CSTB

A

Epilepsy

Chromosome 21

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8
Q

APP

A

Alzheimer’s

Chromosome 21

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9
Q

Describe Trisomy 21

A 
Down’s syndrome 
Intellectual disabilities
Non disjunction 
Epilepsy 
Almond eyes
Heart problem
Etc
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10
Q

Describe trisomy 18

A 
Edwards syndrome 
Intellectual disabilities 
Small
Clenched fists
Kidney abnormalities 
Difficulty feeding
Infant death
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Biology 1B
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