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Biochem V > Single Gene Disorders > Flashcards

Single Gene Disorders Flashcards

(78 cards)

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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
Are mutations in the RET gene dominant or negative?
dominant
26
What are two hallmarks of an X-linked recessive disorder?
no father to son transmission boys affected more than girls
27
What is the most common X-linked recessive disease?
Duchenne Muscular Dystrophy
28
What gene is affected in DMD?
dystrophin
29
What if the function of dystrophin?
attachment of cytoskeleton to ECM in muscle
30
What is more severe, DMD or Beckers Muscular Dystrophy?
DMD
31
Dystrophin is linked by what protein to the ECM?
beta-dystroglycan
32
What is a hallmark of X-linked dominant diseases?
father to daughter transmission
33
Mitochondrial genes affects what two types of tissues predominantly?
muscles and nerves
34
What is the mode of mitochondrial gene transmission?
mothers to all daughters
35
Mutations rates are higher where, mitochondria or nuclear genes?
mitochondrial
36
What is heteroplasmy?
presence of a mixture of more than one type of organeller genome
37
What is the most prevalent mitochondrial disorder?
Lebers Hereditary Optic Neuropathy
38
What gene is defective in LHON? What protein does this affect?
ND1 Complex I
39
Why can consanguineous matings be so detrimental?
closely related individuals often care the same mutant allele
40
What does the coefficient of inbreeding describe?
homozygosity of a child
41
What is an autosomal dominant disease with variable expressivity?
neurofibromatosis
42
The severity and age of onset of Huntingtons depend on what?
triplet expansion
43
What kind of mutation is present in achondroplasia? What receptor is affected?
dominant fibroblast growth factor
44
What is a common mutation hotspot sequence?
CG dinucleotide repeat
45
Is EDS dominant, recessive or both?
both
46
Is osteogenesis imperfecta dominant or recessive?
dominant
47
The dominant negative effect often targets what types of proteins?
proteins in complexes
48
Is familial hypercholesterolemia dominant or recessive?
dominant
49
What is the RET gene product?
tyrosine kinase receptor
50
Loss of function of RET causes what disease?
Hirchsprung Disease
51
RET protein functions in the development of what type of cells?
neural crest cells
52
A gain of function in the RET gene causes what disease?
Multiple Endocrine Neoplasia
53
Are both mutations of the RET gene dominant or recessive?
both are dominant
54
What is the most common X-linked recessive disease?
Duchenne Muscular Dystrophy
55
What is the function of dystrophin?
to link the cytoskeleton to the extracellular matrix
56
What two types of proteins often feature recessive inheritance patterns?
enzymes and proteins involved in transport/storage
57
What is a proband?
person serving as the starting point of genetic study of a family
58
What are two autosomal recessive diseases?
CFTR and PKU
59
What is the acronym for remembering autosomal dominant diseases?
HNA - OFL
60
What is a key feature of autosomal dominant inheritance?
one parent is likely effected
61
How do CAG repeats correlate with Huntingtons Disease?
more CAG repeats = more severe of disease
62
What is the most common X-linked recessive disease?
DMD
63
Which disease almost exclusively rises from a mutation hotspot?
anchondroplasia (523)
64
What is the major source for maternal mutations?
non-disjunction
65
What is the major source of paternal mutations?
replication errors
66
What type of collagen is defective in osteogenesis imperfecta?
Type I
67
What does the dominant negative effect mean?
one mutated protein may destroy the entire complex
68
Defects in what protein cause Li-Fraumeni?
p53
69
What is a Barr Body?
inactive female X-chromosome in a somatic cell
70
Where do Barr bodies condense?
at the periphery of the nucleus
71
What is a common X-linked dominant disease?
Incontinentia Pigmenti
72
Incontinentia Pigmenti features what defective protein?
NFKB Essential Modulator (NEMO)
73
How much higher is the mutation rate in mitochondria than it is genomic DNA?
10x
74
What is heteroplasmy?
presence of more than one type of organeller genome within a cell
75
How is mitochondrial DNA passed down?
from mother to all offspring
76
What receptor is mutated in achondroplasia?
FGFR3
77
What disease features a defective ND1 gene? What protein does this defective gene affect?
ND1 Complex I
78
Inborn errors of metabolism are what kind of genetic disorder?
autosomal recessive

Biochem V (11 decks)

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