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MyReview Step > GeneticsHighYields > Flashcards

GeneticsHighYields Flashcards

1
Q

Heteroplasmy

A

Mix of two types of genetic material

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2
Q

Variable expression

A

The severity of the phenotype varies from person to person. So, one person has a mutationand looks like this. And another has same mutation but looks like that.

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3
Q

Incomplete penetrance

A

Not all those affected will show the phenotype. So, person ha mutation and looks like this, and another has mutation but doesn’t show anything.

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4
Q

Loss of hererozygosity

A

When tumor suppressor gene is mutated, complementary alleles must be deleted or mutated too before person shows disease.

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5
Q

Imprinting

A

Many ways to define it but one way is: momma has gene deleted but baby has papas copy of it, but then, papas copy turns out to be deleted, so baby has no copy after all. Or viceversa. So what baby has depends on whether mutation comes from papa or momma.

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6
Q

Classic examples of imprinting. (Two)

A

Prayer Willi and Angelman syndromes.

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7
Q

Angelman Syndrome is ——— imprinting

A

Maternal

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8
Q

Prader willi is example of ——- imprinting

A

Paternal

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9
Q

Pleitropy

A

Is when a gene has more than one effect

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10
Q

Classic example of pleiotrophy

A

Marfan syndrome - one single gene mutation shows up different ways

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11
Q

Anticipation and classic example of it

A

Severity of disease worsens with each generation. Example is Huntington disease.

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12
Q

Mosaicism . Example is?

A

The presence of Two or more population of cells with different genotypes in one single person. Example: Down’s syndrome.

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13
Q

Only one allele is needed for disease expression ? (Type of inheritance)

A

Autosomal dominant

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14
Q

Disease observed in multiple generations

A

ADominant

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15
Q

No skip generation. Skip generations can be seen if decreased penetrance.

A

ADominant

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16
Q

Male and female equally affected

A

ADominant (autosomal part)

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17
Q

Male to male transmission possible and seen

A

ADominant

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18
Q

Relatively rare diseases

A

ADominant

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19
Q

Common pattern of mating: homozygous normal and heterozygous affected

A

ADominant

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20
Q

Rarely: heterozygous mate with heterozygous

A

ADominant

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21
Q

An affected person has at least one affected parent

A

ADominant

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22
Q

In this type of inheritance, what is coded are non catalytic structural proteins

A

ADominant

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23
Q

In this inheritance, late onset phenotype is seen, after puberty

A

ADominant

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24
Q

Occasionally incomplete penetrance

A

ADominant

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25
Q

Often pleiotrophic

A

ADominant

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26
Q

Both mutant alleles must be present for disease expression

A

aRecessive

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27
Q

Affected person must inherit one copy of the disease-causing allele from each parent

A

ARecesssive

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28
Q

Skip generations are seen

A

ARecessive

29
Q

Typically seen in only one generation of a pedigree

A

aRecessive

30
Q

Makes and females equally affected

A

Autosomal

31
Q

Male to male transmission possible

A

Can be autosomal recessive

32
Q

Typical mating pattern : homozygotes produced by union of two heterozygotes carrier parents (we don’t have te disease, why does our baby have it?)

A

ARecessive

33
Q

Affected person likely has one homozygous parents and one heterozygous parent

A

ARecessive

34
Q

Early onset diseases, often seen at birth

A

ARecessive

35
Q

Most —— diseases affect catalytic proteins (cause enzyme deficiencies)

A

AReccesive

36
Q

Consanguinity sometimes seen (closely related ancestor most likely have similar genes)

A

ARecessive

37
Q

All affected are male

A

X linked recessive

38
Q

No male to male transmission seen

A

X linked recessive

39
Q

All affected male produce carrier daughters - all their daughters are carriers.

A

X linked recessive

40
Q

Only one mutant X allele is needed for disease expression

A

X linked dominant

41
Q

Multiple generations affected, no skin lesions, twice as often in females, no male to male transmission

A

X linked dominant

42
Q

Affected male passes trait to all daughters (no sons)

A

X linked dominant

43
Q

Affected female passes trait to both daughters and sons (50% chances)

A

X linked dominant

44
Q

Variable expression in females

A

X linked females

45
Q

Non Mendelian fashion inheritance, only maternally inherited

A

Mitochondrial

46
Q

All offspring of an affected female are affected

A

Mitochondrial

47
Q

No offspring of affected male are affected

A

Mitochondrial

48
Q

Neuropathies and myopathies commonly seen

A

Mitochondrial

49
Q

Job syndrome Mode of inheritance?

A

AD

50
Q

mOI of li fraumeni

A

AD

51
Q

MOi of Acute intermittent porphyria

A

AD

52
Q

MOI of von Hippel lindau

A

AD

53
Q

MOI of von willenbrand disease

A

AD

54
Q

Job syndrome is also known as

A

Hyperimmunoglobulin E syndrome

55
Q

MOI of Marfan syndrome

A

AD

56
Q

MoI of osteogenesis imperfecta

A

AD

57
Q

mOI of Soler Weber rendu syndrome

A

AD

58
Q

MOi of familial hyper cholesterolelmia

A

AD

59
Q

MOI of Huntington’s disease

A

AD

60
Q

MOi of hypokalemic periodic paralysis

A

AD

61
Q

MOi of achondroplasia

A

AD

62
Q

MOI of adult oolycystic kidney dosease

A

AD

63
Q

MOi of hereditary spherocytosis

A

AD

64
Q

MOi of Sturge Weber syndrome

A

AD

65
Q

MOI of tuberous sclerosis

A

AD

66
Q

MOI of neurofibromatosis

A

AD

67
Q

MOi of myotonic dystrophy

A

AD

68
Q

MOI of familial adenomatous polyposis

A

AD

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