Inheritance And Disease Flashcards

1
Q

Where do you inherit mitochondrial DNA come from

A

All mitochondria/mitochondrial DNA is inherited from the mother

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2
Q

What does imprinting mean

A

One allele is active while the other is inactive

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3
Q

What is mosaicism

A

An error in cell division, the same cells have different genetic make up

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4
Q

What does Mendelian inheritance mean

A

Mendelian inheritance refers to certain patterns of how traits are passed from parents to offspring

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5
Q

What are the different types of Mendelian inheritance

A

Autosomal recessive
Autosomal dominant
X-linked

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6
Q

How does an autosomal recessive manifest

A

An autosomal recessive disease manifests in a homozygous state

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7
Q

For offspring to inherit a autosomal recessive how many defective genes do they need to inherit

A

For an autosomal recessive disease to be inherited 2 defected genes need to be inherited 1 from each parent

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8
Q

What is the chance of getting an autosomal recessive disease

A

25%

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9
Q

What is the chance of been a carrier of an autosomal recessive disease

A

50%

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10
Q

What is the chance of an affected child’s sibling been a carrier of an autosomal recessive disease

A

66.6%

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11
Q

Who is more affected by autosomal recessive disease

A

Males and females are affected equally

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12
Q

What is an example of an autosomal recessive disease

A

Cystic fibrosis

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13
Q

What does a autosomal dominant disease manifest in

A

An autosomal dominant disease manifests in a heterozygous state

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14
Q

Who is affected most by autosomal dominant diseases

A

Males and females are affected equally

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15
Q

Does autosomal dominant disease affect single or multiple generations

A

Multiple generations

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16
Q

Why can an offspring get a autosomal dominant disease if the parents are unaffected

A

Gonadal mosaicism
Mother has reduced penetrance
Mother has variable expression

17
Q

How many defect genes do you need to inherit a autosomal dominant disease

A

Only one gene is needed so a 50% chance that offspring can be affected

18
Q

What is an example of an autosomal dominant disease

A

Huntingtons disease

19
Q

What causes an x-linked disease

A

Caused by a mutation on the X chromosomes

20
Q

How is an x-linked disease passed to offspring

A

The transmission of an x-linked is never male to male because the son will get the X chromosome from the mother so transmission will be female to male

21
Q

Who is more affected by x-linked diseases

A

Males are more affected
Females will be carriers of the disease but wont suffer

22
Q

Are x-linked diseases recessive or dominant

A

X-linked diseases can be both recessive and dominant

23
Q

What is an example of a recessive x-linked disease

A

Duchennes muscular dystrophy

24
Q

What is an example of a dominant x-linked disease

A

Alports syndrome

25
Q

What does homozygous mean

A

A cell is said to be homozygous for a particular gene when identical alleles of the gene are present on both homologous chromosomes

26
Q

What does heterozygous mean

A

Diploid organism is heterozygous at a gene locus when its cell contains two different alleles of a gene

27
Q

What could be the cause of a disease

A

Genetic cause
Multifactorial cause
Environmental cause

28
Q

What are examples of genetic diseases

A

Down syndrome
Cystic fibrosis
Huntingtons disease
Haemophilia

29
Q

What are examples of multifactorial diseases

A

Spina bifida
Cleft palate
Diabetes
Schizophrenia

30
Q

What are examples of environmental factors which could causes disease

A

Poor diet
Infection
Drugs
Accident