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bgm1004-genetics > BGM1004/L13 Inheritance II > Flashcards

BGM1004/L13 Inheritance II Flashcards

1
Q

Give the equation for phenotype frequencies for a population in Hardy-Weinberg equilibrium.

A

P + Q = 1

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2
Q

Give the equation for genotype frequencies for a population in Hardy-Weinberg equilibrium.

A

p^2 + 2pq + q^2 = 1

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3
Q

Give 3 conditions in which Hardy-Weinberg equilibrium does not apply.

A

Gene flow
Genetic drift
Non-random mating
Natural selection

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4
Q

What is a Hardy-Weinberg equilibrium?

A

A population with random mating under no selective pressure

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5
Q

What is albinism?

A

Lack of melanin pigment

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6
Q

What is phenylketonuria?

A

Inability to metabolise phenylalanine

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7
Q

What is Tay-Sachs?

A

Neurodegeneration due to lack of N-acetyl-hexoaminidase

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8
Q

What is cystic fibrosis?

A

Thick mucus due to lack of CTFR

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9
Q

What is sickle cell anemia?

A

Mutation in beta-chain of haemoglobin

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10
Q

What is haemochromatosis?

A

Mutation in HFE gene causing build-up of iron in body

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11
Q

Name 3 human autosomal recessive conditions.

A

Albinism
Phenylketonuria
Tay-Sachs
Cystic Fibrosis
Sickle-cell anemia
Haemochomatosis

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12
Q

What is Huntington’s Disease?

A

Progressive brain disease

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13
Q

What is polycystic kidney disease?

A

Development of cyst clusters primarily in kidneys

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14
Q

What is achondroplastic dwarfism?

A

Failure to convert cartilage to bone
Mutation in FGFR3

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15
Q

What is polydactyly?

A

Extra digits

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16
Q

What is hypercholestrolemia?

A

Missing protein that removes cholestrol from blood
Causes heart attacks by 50

17
Q

What is FASPS?

A

Familial advanced sleep phase syndrome
Disturbed circadian rhythm

18
Q

Give 3 human autosomal dominant conditions.

A

Huntington’s
Polycystic kidney disease
Achondroplastic dwarfism
Polydactyly
Hypercholestrolemia
FASPS

19
Q

Where do autosomal recessive diseases reappear?

A

Progeny of unaffected parents (carriers)

20
Q

How many genes does an X chromosome carry?

A

900-1400

21
Q

How many genes does a Y chromosome carry?

A

70-400

22
Q

Name 2 X-linked recessive disorders in humans.

A

Haemophilia
Duchene & Becker muscular dystrophies
Fragile-X syndrome
Deuteranopia

23
Q

What is retinitis pigmentosa?

A

Progressive loss of vision leading to blindness
Y-linked disorder

24
Q

What is Leri-Weill dyschondrosteosis?

A

Pseudoautosomal dominant disorder
Abnormal shortening of forearms and lower legs

25
Q

What causes calico coat colour in cats?

A

X inactivation

bgm1004-genetics (22 decks)

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