Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

MyReview Step > GeneticsHighYields > Flashcards

GeneticsHighYields Flashcards

1
Q

Heteroplasmy

A

Mix of two types of genetic material

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Loss of hererozygosity

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Classic examples of imprinting. (Two)

A

Prayer Willi and Angelman syndromes.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Angelman Syndrome is ——— imprinting

A

Maternal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Prader willi is example of ——- imprinting

A

Paternal

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Pleitropy

A

Is when a gene has more than one effect

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Classic example of pleiotrophy

A

Marfan syndrome - one single gene mutation shows up different ways

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Anticipation and classic example of it

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

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

A

Autosomal dominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Disease observed in multiple generations

A

ADominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

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

A

ADominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Male and female equally affected

A

ADominant (autosomal part)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Male to male transmission possible and seen

A

ADominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Relatively rare diseases

A

ADominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Common pattern of mating: homozygous normal and heterozygous affected

A

ADominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Rarely: heterozygous mate with heterozygous

A

ADominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

An affected person has at least one affected parent

A

ADominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

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

A

ADominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

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

A

ADominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Occasionally incomplete penetrance

A

ADominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Often pleiotrophic

A

ADominant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Both mutant alleles must be present for disease expression

A

aRecessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

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

A

ARecesssive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

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?

50
Q

mOI of li fraumeni

51
Q

MOi of Acute intermittent porphyria

52
Q

MOI of von Hippel lindau

53
Q

MOI of von willenbrand disease

54
Q

Job syndrome is also known as

A

Hyperimmunoglobulin E syndrome

55
Q

MOI of Marfan syndrome

56
Q

MoI of osteogenesis imperfecta

57
Q

mOI of Soler Weber rendu syndrome

58
Q

MOi of familial hyper cholesterolelmia

59
Q

MOI of Huntington’s disease

60
Q

MOi of hypokalemic periodic paralysis

61
Q

MOi of achondroplasia

62
Q

MOI of adult oolycystic kidney dosease

63
Q

MOi of hereditary spherocytosis

64
Q

MOi of Sturge Weber syndrome

65
Q

MOI of tuberous sclerosis

66
Q

MOI of neurofibromatosis

67
Q

MOi of myotonic dystrophy

68
Q

MOI of familial adenomatous polyposis

MyReview Step (15 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions