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AUC Med > MCB 3rd Unit 3 > Flashcards

MCB 3rd Unit 3 Flashcards

1
Q

What is the inheritance pattern of most hemoglobinopathies?

A

AR

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2
Q

The two broad categories of hemoglobinopathies are:

A

Structural variants and thalissemias

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3
Q

Thalissemias are an imbalance in relative amounts of:

A

Alpha and beta chains

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4
Q

Carriers of Hb beta are statistically likely to be:

A

Italian/Greek

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5
Q

Carriers of HbS are statistically likely to be:

A

African

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6
Q

What type of hemoglobin is fetally expressed?

A

HbF

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7
Q

What type of hemoglobin is expressed in adults?

A

HbA

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8
Q

E6V mutation in hemoglobin results in what disease?

A

Sickle Cell (HbS)

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9
Q

The E6V mutation in sickle cell causes an abnormal interaction between ___ chains including hydrophobic interactions, polymerization of HbS globin chains, and sickling

A

Beta globin

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10
Q

The E6K mutation in Hb gene leads to:

A

HbC

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11
Q

Compensatory hyperplasia of bone marrow is a feature of:

A

Alpha thalissemia

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12
Q

An inclusion of denatured hemoglobin is called a:

A

Heinz body

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13
Q

Teardrop cells common in beta-thalissemia after spleen removal are called:

A

Dacrocytes

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14
Q

Clinical severity of alpha thalissemia correlates with:

A

Number of genes deleted (2 copies each of HBA1 and HBA2)

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15
Q

The most severe form of alpha thalissemia, in which no alpha globin is expressed is:

A

Hydrops fatalis (lethal in utero, 4 genes deleted)

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16
Q

If only one alpha hemoglobin gene is present, the resulting disease is:

A

HbH disease

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17
Q

B+ Thalissemia, better known as ___, results in reduced expression of beta globin and milder anemia than B0 Thalissemia

A

Beta Thalissemis Intermedia

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18
Q

Alpha thalissemia involves complete gene deletions, what is the cause of beta thalissemia?

A

Null mutations (typically point mutations)

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19
Q

What is Hereditary Persistence of Fetal Hemoglobin (HPFH)?

A

When lambda globin expression persists in adulthood due todeletions of beta and gamma globin

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20
Q

Alpha globin is a ___ for beta-thalissemia

A

Modifier gene

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21
Q

What type of mutations are stably transmitted to offspring and retained in somatic tissues?

A

Static

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22
Q

What type of mutations may continue to mutate during transmission to offspring and tissue development?

A

Dynamic

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23
Q

What is a common feature to all dynamic mutation disorders?

A

Neurological symptoms, most are trinucleotide repeat disorders

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24
Q

Backwards slippage in a trinucleotide repeat causes:

A

Expansions

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25
Q

Forward slippage in a trinucleotide repeat causes:

A

Contractions

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26
Q

“Anticipation” was originally known as the:

A

Sherman Paradox

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27
Q

Non-Transmitting Males (NTM’s) are explained by:

A

Mutable (premutation) alleles

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28
Q

Most trinucleotide repeat disorders show which heritability pattern?

A

Dominant

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29
Q

The repeat sequence seen in Freidrich’s ataxia is:

A

GAA

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30
Q

The repeat sequence seen infragile X is:

A

CGG

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31
Q

The repeat sequence seen in Huntington’s disease (and SCA) is:

A

CAG

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32
Q

The repeat sequence seen in myotonic dystrophy is:

A

CTG

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33
Q

CAG expansions (Poly-glutamine) express a ___ expansion bias

A

Paternal

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34
Q

CGG, CTG, and GAA expansions express a ____ expansion bias

A

Maternal

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35
Q

Fragile X expresses a ____ expansion bias

A

maternal

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36
Q

Huntington’s disease expresses a ____ expansion bias

A

paternal

37
Q

Myotonic dystrophy expresses a ____ expansion bias

A

Maternal

38
Q

Cerebellar ataxia expresses a ____ expansion bias

A

Paternal

39
Q

Freidrich ataxia expresses a ____ expansion bias

A

Maternal

40
Q

The gene associated with fragile X is:

A

FRAXA

41
Q

The gene associated with myotonic dystrophy is:

A

DM1

42
Q

The gene associated with Freidrich ataxia is:

A

FRDA

43
Q

The mode of inheritance for Fragile X is:

A

XD

44
Q

What are three ways to measure repeat expansions?

A

PCR/gel electrophoresis
Southern blot
Western blot (not routine)

45
Q

The mode of inheritance for myotonic dystrophy is:

A

AD

46
Q

The mode of inheritance for Huntington’s disease is:

A

AD

47
Q

The mode of inheritance for Spinocerebellar ataxia is:

A

AD

48
Q

The mode of inheritance for Friedreich’s ataxia is:

A

Autosomal recessive

49
Q

Freidreich’s ataxia is caused by GAA expansions in intron 1 of:

A

Frataxin (FXN)

50
Q

Is there anticipation in FRXA? Is it associated with the small or large allele repeat?

A

No, small

51
Q

FRXA results in excess ___ accumulation in mitochondria, leading to energy deficiency and free radicals

A

Iron

52
Q

What is the 2nd leading cause of inherited mental retardation?

A

Fragile X Syndrome

53
Q

Fragile X is caused by ___ expansions in the 5’ UTR of the ___ gene

A

CGG, FMR1

54
Q

Symptoms of fragile X include:

A

MR, autism spectrum
Delayed milestones
long face, large ears, prominent forehead/jaw
Macroorchidism

55
Q

Epigenetic silencing involves binding of MeCP2, which recruits corepressor complex:

A

Sin3 with HDAC’s

56
Q

What type of protein is FMRP?

A

RNA binding protein (limits translation)

57
Q

FXTAS involves ___ onset neurodegeneration, increase FMR1 mRNA in the brain but reduced translation, mRNA toxicity, gain of function at RNA level

A

late

58
Q

Myotonic dystrophy is an AD disease involving CTG expansion in the 3’ UTR of the ___ gene

A

DMPK

59
Q

Does muscular dystrophy undergo anticipation?

A

Yes

60
Q

Symptoms of DM1 include ptosis and an open, ___ mouth

A

Triangular

61
Q

DM1 involves a decrease in ___ protein and an increase in ___ protein

A

MBNI, CUGBP1

62
Q

DM1 involves pleiotropy due to abberant missplicing of multiple genes, causing a ____ effect

A

Trans-dominant

63
Q

What disease includes progressive loss of motor function, onset 30’s-40’s, depression, and chorea

A

Huntington’s Disease

64
Q

What disease includes slowly progressive cerebellar degeneration, late onset, and ataxia

A

Spinocerebellar ataxia

65
Q

The CAG expansions that lead to SCA result in a ___-of-function

A

Gain

66
Q

Which form of mHtt does sumoylation favor?

A

Soluble (cytotoxic)

67
Q

FRXA and Freidreich ataxia are both due to ___ mutations caused by repeat expansions (and occassionally point mut. or deletions)

A

Null

68
Q

Freidreich ataxia, FRXA, and MD1 all express a ___ expansion bias

A

Maternal

69
Q

Female carriers of fragile x may develop:

A

Premature ovarian failure

70
Q

What type of diseases are Huntingtons and SCA?

A

Polyglutamine

71
Q

Pathogenesis of polyQ disease is due to interference with:

A

Transcriptional regulation

72
Q

When there is no clear inheritance pattern, and traits appear in families more frequently than predicted by chance, the call this ____ inheritance

A

Non-mendelian

73
Q

In ____ diseases, other genes and encironmental factors have no effect

A

Fully penetrant

74
Q

A description for a trait in which multiple genes each have a limited impact on the phenotype is:

A

Polygenic traits

75
Q

A description for a trait in which relatively few genes have an impact on the phenotype is:

A

Oligogenic traits

76
Q

A common feature of multifactorial disorders due to interactions of multiple genetic and environmental factors is:

A

Variable expressivity

77
Q

Another word for quantitative traits is:

A

Dichotomous

78
Q

Four types of studies that can examine qualitative traits are:

A

Population/migration studies
Adoption studies
Affected family studies
Twin studies

79
Q

What is the formula for sibling risk ratio?

A

Prevalence of ds in siblings of affected / prevalence of ds in gen. pop.

80
Q

What is the name for when two related individuals share a trait?

A

Concordance

81
Q

If monozygotic twin concordance is greater than dizigotic twin concordance, this suggests:

A

Genetic component

82
Q

If low concordance in MZ and DZ twins, this suggests:

A

Environmental factors

83
Q

In monogenic disorders, if only genes are involved, MZ concordance will be ___ and DZ concordance will be ___

A

100%, 50%

84
Q

For quantitative, heritability studies, compare the degree of ___ between MZ and DZ twins

A

Variance

85
Q

If h^2 is = 1 in a heritability study, the condition is only ____

A

Genetically determined

86
Q

If h^2 is = 0 in a heritability study, the condition is only ____

A

Environmentally determined

87
Q

What model is used to explain how continuously-distributed, quantitative traits determine a qualitative trait?

A

Liability threshold model

88
Q

If liability in an individual exceeds a threshold the disease will occur

A

The greater the individuals liability above the threshold, the greater the severity of the disease

AUC Med (12 decks)

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