Modes of inheritance Flashcards

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1
Q

What does mitochondrial DNA code for

A

15 proteins
rRNA
tRNA

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2
Q

What is a dominant autosomal

A

Characteristic is dominant if it manifests in heterozygote

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3
Q

What is responsible for the colour of someone’s eyes

A

OCA-2

Controls the amount of melanin in melanocytes

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4
Q

What are the symptoms of huntington’s disease

A

Difficulty concentrating, depression, stumbling, involuntary jerking, problems swallowing

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5
Q

What is the mutation of huntingtons disease

A

Repeat of CAG on chromosome
Causes proteins to aggregate resulting in cell death
Glutamate is affected

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6
Q

What are the result of dominant autosomal disorders

A

Gain of function
Dominant negative effect
Insufficient protein made

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7
Q

Risk factor of autosomal recessive disorder

A

Consanguineous marriage

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8
Q

What are the symptoms of cystic fibrosis

A

Defective chloride ion channel
Impaired airway defence
Respiratory infections
Digestive issues

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9
Q

What is the mutation of cystic fibrosis

A

Cystic Fibrosis Transmembrane Conductance regulator gene of chromosome 7

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10
Q

What is the symptoms of haemophilia

A

Severe bleeds

Females don’t really display symptoms

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11
Q

Why are some sex linked disorders milder to females

A

One of the X genes in females is randomly silenced

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12
Q

What is the mutation of X-linked hypophosphatemia

A

PHEX gene mutation

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13
Q

What are the symptoms of X-linked hypophosphatemia

A

Overproduction of FGF21 which inhibits kidney phosphate resorption
Kidneys cannot retain phosphate
Vitamin D resistance rickets
Skeleton becomes fractured

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14
Q

Examples of Y-linked disorders

A

Retinitis Pigmentosa
Mutations in RPY gene
Cells of retina produce a defective protein

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15
Q

How are mitochondrial inherited disorders inherited

A

Inherited from mother

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16
Q

Why is there mitochondrial disease variability

A

May express disease above threshold
Cells have different number of mutant mitochondria
Can develop over age due to accumulation of mitochondria
Replicate binary fission which can lose and gain genes

17
Q

What is leber’s hereditary optic neuropathy

A

Visual loss in young adulthood

Degeneration of optic nerve and retina