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Biochem V > Single Gene Disorders > Flashcards

Single Gene Disorders Flashcards

1
Q

What is haploinsufficiency?

A

half of gene dosage may not be enough for cell to carry out functions

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2
Q

Would a disease on the Y chromosome be dominant or negative?

A

Dominant

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3
Q

What is the relationship of an X-linked disease regarding father to daughter transfer? Sons?

A

all daughters will have it

no sons will have it

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4
Q

What is penetrance?

A

genotype does not manifest as phenotype

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5
Q

What is expressivity?

A

how strong the phenotype manifests itself

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6
Q

What type of disease is Huntington’s?

A

Autosomal Dominant

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7
Q

What is the triplet repeat present in Huntingtons?

A

CAG

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8
Q

What amino acid does the triplet repeat code for? What is the end product?

A

glutamine

poly-glutamine

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9
Q

The severity and age of onset of HD depends on what?

A

extent of the triplet expansion

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10
Q

What kind of mutations takes place in achondroplasia?

A

dominant

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11
Q

What gene is affected in achondroplasia?

A

fibroblast growth factor receptor

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12
Q

What kind of receptor is the FGFR?

A

transmembrane tyrosine kinase

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13
Q

What is the function of the FGFR?

A

to inhibit chondrocyte proliferation

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14
Q

What do mutations in FGFR do?

A

constitutive expression of the receptor that inhibits bone growth

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15
Q

What is a mutation hotspot?

A

chromosomal region where mutations occur frequently

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16
Q

What is a typical chromosomal region for a mutation hotspot?

A

GC repeat

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17
Q

Dominant forms of EDS are caused by what?

A

mutations in collagen genes

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18
Q

Less severe forms of EDS are caused by what?

A

mutations in the genes for collagen processing

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19
Q

Familial Hypercholesterolemia is what kind of mutation?

A

autosomal dominant

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20
Q

The RET gene encodes what?

A

tyrosine kinase receptor

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21
Q

Loss of function of the RET gene causes what?

A

Hirschsprung Disease

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22
Q

Why does the loss of RET cause Hirschprung Disease?

A

impairs the ability of neural crest cells to populate the colon with ganglia

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23
Q

A gain of function mutation in the RET gene causes what?

A

Multiple Endocrine Neoplasia

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24
Q

Constitutive activation of the RET gene causes an increase in what cells?

A

Neuroendocrine Cells

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25
Q

Are mutations in the RET gene dominant or negative?

A

dominant

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26
Q

What are two hallmarks of an X-linked recessive disorder?

A

no father to son transmission

boys affected more than girls

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27
Q

What is the most common X-linked recessive disease?

A

Duchenne Muscular Dystrophy

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28
Q

What gene is affected in DMD?

A

dystrophin

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29
Q

What if the function of dystrophin?

A

attachment of cytoskeleton to ECM in muscle

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30
Q

What is more severe, DMD or Beckers Muscular Dystrophy?

A

DMD

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31
Q

Dystrophin is linked by what protein to the ECM?

A

beta-dystroglycan

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32
Q

What is a hallmark of X-linked dominant diseases?

A

father to daughter transmission

33
Q

Mitochondrial genes affects what two types of tissues predominantly?

A

muscles and nerves

34
Q

What is the mode of mitochondrial gene transmission?

A

mothers to all daughters

35
Q

Mutations rates are higher where, mitochondria or nuclear genes?

A

mitochondrial

36
Q

What is heteroplasmy?

A

presence of a mixture of more than one type of organeller genome

37
Q

What is the most prevalent mitochondrial disorder?

A

Lebers Hereditary Optic Neuropathy

38
Q

What gene is defective in LHON? What protein does this affect?

A

ND1

Complex I

39
Q

Why can consanguineous matings be so detrimental?

A

closely related individuals often care the same mutant allele

40
Q

What does the coefficient of inbreeding describe?

A

homozygosity of a child

41
Q

What is an autosomal dominant disease with variable expressivity?

A

neurofibromatosis

42
Q

The severity and age of onset of Huntingtons depend on what?

A

triplet expansion

43
Q

What kind of mutation is present in achondroplasia? What receptor is affected?

A

dominant

fibroblast growth factor

44
Q

What is a common mutation hotspot sequence?

A

CG dinucleotide repeat

45
Q

Is EDS dominant, recessive or both?

A

both

46
Q

Is osteogenesis imperfecta dominant or recessive?

A

dominant

47
Q

The dominant negative effect often targets what types of proteins?

A

proteins in complexes

48
Q

Is familial hypercholesterolemia dominant or recessive?

A

dominant

49
Q

What is the RET gene product?

A

tyrosine kinase receptor

50
Q

Loss of function of RET causes what disease?

A

Hirchsprung Disease

51
Q

RET protein functions in the development of what type of cells?

A

neural crest cells

52
Q

A gain of function in the RET gene causes what disease?

A

Multiple Endocrine Neoplasia

53
Q

Are both mutations of the RET gene dominant or recessive?

A

both are dominant

54
Q

What is the most common X-linked recessive disease?

A

Duchenne Muscular Dystrophy

55
Q

What is the function of dystrophin?

A

to link the cytoskeleton to the extracellular matrix

56
Q

What two types of proteins often feature recessive inheritance patterns?

A

enzymes and proteins involved in transport/storage

57
Q

What is a proband?

A

person serving as the starting point of genetic study of a family

58
Q

What are two autosomal recessive diseases?

A

CFTR and PKU

59
Q

What is the acronym for remembering autosomal dominant diseases?

A

HNA - OFL

60
Q

What is a key feature of autosomal dominant inheritance?

A

one parent is likely effected

61
Q

How do CAG repeats correlate with Huntingtons Disease?

A

more CAG repeats = more severe of disease

62
Q

What is the most common X-linked recessive disease?

A

DMD

63
Q

Which disease almost exclusively rises from a mutation hotspot?

A

anchondroplasia (523)

64
Q

What is the major source for maternal mutations?

A

non-disjunction

65
Q

What is the major source of paternal mutations?

A

replication errors

66
Q

What type of collagen is defective in osteogenesis imperfecta?

A

Type I

67
Q

What does the dominant negative effect mean?

A

one mutated protein may destroy the entire complex

68
Q

Defects in what protein cause Li-Fraumeni?

A

p53

69
Q

What is a Barr Body?

A

inactive female X-chromosome in a somatic cell

70
Q

Where do Barr bodies condense?

A

at the periphery of the nucleus

71
Q

What is a common X-linked dominant disease?

A

Incontinentia Pigmenti

72
Q

Incontinentia Pigmenti features what defective protein?

A

NFKB Essential Modulator (NEMO)

73
Q

How much higher is the mutation rate in mitochondria than it is genomic DNA?

A

10x

74
Q

What is heteroplasmy?

A

presence of more than one type of organeller genome within a cell

75
Q

How is mitochondrial DNA passed down?

A

from mother to all offspring

76
Q

What receptor is mutated in achondroplasia?

A

FGFR3

77
Q

What disease features a defective ND1 gene? What protein does this defective gene affect?

A

ND1

Complex I

78
Q

Inborn errors of metabolism are what kind of genetic disorder?

A

autosomal recessive

Biochem V (11 decks)

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