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MCBG > Inheritance > Flashcards

Inheritance Flashcards

1
Q

How many generations should you aim for as a minimum when taking a family history?

A

3 generations

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2
Q

What is penetrance in relation to autosomal dominant inheritance?

A

The proportion of heterozygotes for a dominate a gene who express a trait, even if mildly

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3
Q

What is expressivity in relation to autosomal dominant inheritance?

A

The variation in severity of the phenotypic features of a particular gene

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4
Q

In which type of inheritance is population background information (e.g ethnicity) particularly useful? Why?

A

Autosomal recessive inheritance

Carrier frequency for different conditions can vary greatly between different populations

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5
Q

What is consanguinity? Which type of inheritance is it particularly important in?

A

The blood relation of two individuals

Autosomal recessive

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6
Q

How is mtDNA inherited?

A

Maternally

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7
Q

In mitochondrial inheritance, the offspring of an affected female…

A

Will all be affected

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8
Q

In mitochondrial inheritance, the offspring of an affected male…

A

Will not be affected

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9
Q

What is the use of paternal mitochondria?

A

Used to power tail of sperm in fertilisation and then lost

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10
Q

Most individuals affected by mitochondrial diseases have some normal and some mutated mtDNA, what is expression of the disease dependent on?

A

The burden of mutant vs normal mtDNA

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11
Q

Give an example of a mitochondria-related disease.

A

Leber’s hereditary optic neuropathy

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12
Q

Most common disease is not the result of mutations in single genes. It is….

A

Multifactorial

genes and non-genetic factors (e.g. Environment/behaviour) interact - on a spectrum

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13
Q

Give an example of a largely genetic (unifactorial) disease?

A

Duchenne muscular dystrophy

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14
Q

Give an example of a largely environmentally influenced disease?

A

Scurvy

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15
Q

Each individual has how many alleles of each gene?

A

2

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16
Q

What does homozygous mean?
What does heterozygous mean?
What does hemizygous mean?

In relation to alleles

A

Two alleles of a gene are the same

Two alleles of a gene are different

Only one allele exists for that gene on the x chromosome (only in males)

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17
Q

What is an example of co dominance in the human body?

A

Human ABO blood types

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18
Q

What is different between different blood types? What gene codes for these differences?

A

Different glycoproteins on surface of RBCs

Isoglutamin gene

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19
Q

What are the 3 different alleles for blood type? Which 4 blood types exist?

A

A, B and O

A, B, AB and O

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20
Q

Which alleles out of A, B and O are dominant over each other?

A

A is dominant over O
B is dominant over O
A and B show co-dominance

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21
Q

How is the unknown sex of an individual displayed when drawing a pedigree? How is a deceased individual displayed?

A

Diamond

Diagonal line through the symbol

22
Q

By convention when drawing a pedigree the oldest child…

A

Is on the left of a line

23
Q

By convention when during a pedigree each generation is… (2)

A

Numbered (roman numerals)

Given a separate line

24
Q

In autosomal recessive inheritance, heterozygotes are…

A

Unaffected

25
Q

In autosomal recessive inheritance, males and females are…

A

Equally affected

26
Q

How can you recognise an autosomal recessive condition by a pedigree?

A

Males/females equally affected
Can skip generations
Disease ‘comes out of nowhere’

27
Q

In autosomal dominant inheritance, heterozygotes are…

A

Affected

28
Q

In autosomal dominant inheritance, males and females are…

A

Equally affected

29
Q

Disease for autosomal dominant conditions is rarely found in the ______ state.

A

Homozygous

30
Q

Every affected individual has a _____% chance of having affected children

(Autosomal dominant)

A

50%

31
Q

Two heterozygotes have a _____% chance of having affected offspring.

(Autosomal recessive)

A

25% chance

32
Q

Give an example of a autosomal recessive condition and an autosomal dominant condition.

A

Cystic fibrosis

Huntington’s disease

33
Q

How can you recognise an autosomal dominant condition from a pedigree?

A

Males and females equally affected
Disease does not skip generations
Affected child will have at least 1 affected parent

34
Q

Which individuals are affected by an X-linked recessive condition?

A

Homozygous females

Hemizygous males

35
Q

X-linked recessive inheritance is more common…

A

In males

36
Q

In x-linked recessive inheritance affected males _____ pass on trait to their sons

A

Cannot

37
Q

In x linked recessive inheritance, what is the chance of a heterozygous female having an affected son?

A

50%

38
Q

Give an example of an x-linked recessive disease.

Give an example of an x-linked dominant disease

A

Haemophilia A

Fragile X syndrome

39
Q

How can x-linked recessive inheritance be recognised?

A

Males and females unequally affected
More common in males
Every affected female will have an affected father and a carrier mother at least
Every affected male will have at least a carrier mother

40
Q

Which individuals are affected by X-linked dominant inheritance?

A

Hemizygous males and heterozygous females

41
Q

In x-linked dominant inheritance, a heterozygous female has a ____% chance of having affected offspring.

A

50% chance

42
Q

Why is Y linked inheritance so rare? How is it passed? What is an example?

A

Small chromosome - so very few genes

From father to son only

Y chromosome infertility

43
Q

In which way is albinism inherited?

A

Autosomal recessive

Result of multiple genes

44
Q

What is polygenic inheritance?

A

Where more than 1 gene is involved in producing a phenotype

45
Q

What are linked genes?

A

Genes on the same chromosome

46
Q

What are unlinked (not linked) genes?

A

Genes on different chromosomes

47
Q

Congenital cataract shows which inheritance pattern?

A

Autosomal dominant

48
Q

Tay-sachs disease shows which inheritance pattern?

A

Autosomal recessive

49
Q

Haemophilia A shows which inheritance pattern?

A

X-linked recessive

50
Q

Two genes that are close together on the same chromosome are _____ likely to be inherited together at meiosis

A

More likely to be inherited together

MCBG (15 decks)

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