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More genetics Flashcards

1
Q

What is codominance?

A

Both alleles contribute to the phenotype

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2
Q

What is variable expressivity?

A

Phenotype varies among individuals with the same genotype

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3
Q

What is incomplete penetrance?

A

Not all individuals with a mutant genotype show the sme phenotype

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4
Q

What is pleiotropy?

A

One gene contributing to multiple phenotypic effects

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5
Q

Musty body odor = ?

A

PKU

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6
Q

What is the loss of heterozygosity?

A

Two hit phenomenon

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7
Q

What is a dominant negative mutation?

A

A heterozygote produces a nonfunctional altered protein that also prevents the normal gene product functioning

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8
Q

What is linkage disequilibrium?

A

Tendency for certain alleles at 2 linked loci to occur together more often that expected by chance

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9
Q

What is locus heterogeneity?

A

Mutations in the same locus produce a similar phenotype

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10
Q

What is allelic heterogeneity?

A

Different mutations in the same locus produce the same phenotype

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11
Q

What is heteroplasmy?

A

Presence of both normal and mutated mtDNA, resulting in variable expression in mitochondrial inherited disease

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12
Q

What is uniparental disomy?

A

here an offspring receives 2 copies of a chromosome from 1 parent, and no copies from the other.

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13
Q

What does heterodisomy (a uniparental disomy) result from?

A

Meiosis I error

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14
Q

What does isodisomy (a uniparental disomy) result from?

A

Meiosis II error

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15
Q

What is the Hardy-Weinberg equation?

A

= {p^2 + 2pq + q^2 : p and q are the frequencies of separate alleles}

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16
Q

What are the four assumptions made in the Hardy-Weinberg equation?

A
  1. No mutation
  2. Natural selection is NOT occurring
  3. Random mating
  4. No net migration
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17
Q

What is imprinting?

A

Methylation of a certain set of genes, causing silencing

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18
Q

What is the cause of Prader-willi syndrome?

A

Paternal gene deleted on 15q

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19
Q

What is the cause of Angelman syndrome?

A

Maternal gene deleted on 15q

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20
Q

What are the symptoms of Prader-Willi syndrome?

A

Food seeking, MR, obesity

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21
Q

What are the symptoms of Angelman syndrome?

A

MR, Happy puppet

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22
Q

What is the inheritance pattern of hypophosphatemic rickets (vitamin D deficient rickets)?

A

X linked dominant

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23
Q

What is the inheritance pattern of MEELAS and MRRF?

A

Mitochondrial

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24
Q

What is the genetic defect in autosomal dominant polycystic kidney disease? (which two proteins on which two chromosomes)

A

Mutation in PKD1 on chromosome 16 and PKD2 on 4

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25
What is the genetic cause of familial adenomatous polyposis (HNPCC)? Which chromosome is this on?
Mutation of APC gene on chromosome 5
26
What is the genetic defect in familial hypercholesterolemia?
Defective LDL receptor
27
What is hereditary hemorrhagic telangiectasia?
Inherited disorder of blood vessels
28
What is hereditary spherocytosis?
Spheroid erythrocytes due to spectrin or ankyrin defect
29
What is the genetic bases of huntington's disease?
CAG repeats on chromosome 4
30
What are the two neurotransmitters in the brain that are decreased in Huntington's? What two areas of the brain are most affected?
GABA and ACh Caudate nucleus and putamen
31
What is multiple endocrine neoplasias (MEN)?
Familial tumors of endocrine glands. Associated with the RET gene
32
What is the genetic basis for neurofibromatosis 1?
NF1 gene mutated on chromosome 17
33
What is the genetic basis for neurofibromatosis 2?
NF2 gene mutated on chromosome 22
34
What is tuberous sclerosis?
Neurocutaneous disorder with multi-organ system involvement.
35
What is the von hippel-Lindau disease?
Deletion of VHL gene on chromosome 3
36
Are mucopolysaccharidoses usually AD or AR in inheritance pattern?
AR
37
What is the genetic basis for CF?
Mutation in CFTR gene on chromosome 7
38
What does the CFTR gene code for?
A Na/Cl channel
39
What are the signs of CF? (3)
Salty baby Contraction alkalosis Hypokalemia
40
DO CF patients present with hyperkalemia or hypokalemia?
Hypo
41
What is the bacteria that CF patients are often infected with?
Pseudomonas Aeruginosa
42
What is the treatment for CF?
N-acetylcysteine (loosens mucus plugs)
43
What is Bruton's Agammaglobulinemia? What is its mode of inheritance?
X-linked recessive lack of B cells, resulting in no antibody production
44
What is Fabry's disease? What is its mode of inheritance?
X-linked recessive lysosomal storage disease
45
What is Wiskott Aldrich syndrome? What is its mode of inheritance?
X-linked recessive thrombocytopenia
46
What is G6PD deficiency? What is its mode of inheritance?
X-linked recessive lack of glucose-6-phosphate dehydrogenase, resulting in hemolytic anemia d/t loss of glycolysis in RBCs
47
What is Lesch Nyhan syndrome? What is its mode of inheritance?
X-linked recessive loss of HGPRTase used in purine recycling
48
What is the mode of inheritance of Duchenne and Becker muscular dystrophy?
X-linked recessive lack of dystrophin
49
What is Hunter Syndrome? What is its mode of inheritance?
X-linked recessive MPS II from a lack of iduronate sulfatase II
50
What is Ornithine transcarbamylase deficiency? What is its mode of inheritance?
X-linked recessive lack defect in urea cycle (final enzyme in the urea cycle)
51
Early onset muscle weakness that begins at the pelvic girdle and ascends superiorly = ?
Duchenne/becker muscular dystrophy
52
Both Duchenne's and Becker's muscular dystrophy are x-linked recessive inherited disorders. What is the difference between the two?
Duchenne's is frameshift | Becker's is point mutation
53
What is the genetic basis for myotonic type 1 muscular dystrophy? (protein + Gene)
CTG trinucleotide repeat in DMPK gene
54
What is fragile X syndrome?
Trinucleotide repeat in X chromosome, resulting in MR
55
What is the trinucleotide repeat sequence for Huntington's? Friedreich ataxia? Myotonic dystrophy? Fragile X?
Huntington's = CAG Friedreich ataxia = GAA Myotonic dystrophy = CTG Fragile X = CGG
56
Trisomy 13 = ?
Patau
57
Trisomy 18 = ?
Edwards
58
What are the three P's of Patau's?
cleft Palate holoProsencephaly Polydactyly
59
What are the symptoms of Edward's syndrome? (3)
MR Low set ears Rocker bottom feet
60
What is the Robertsonian translocation?
A non-reciprocal translocation between chromosomes 13, 14, 15, 21, or 22
61
What is Cri0du-chat syndrome?
Congenital microdeletion of short arm of chromosome 5 , causing cat-like cry
62
What is William's syndrome?
Congenital microdeletion of long are of chromosome 7
63
What are the symptoms of 22q11 del syndromes?
``` Cleft palate Abnormal Facies Thymic aplasia Hypocalcemia Cardiac defects ```
64
What causes the hypocalcemia with a deletion of chromeonse 22?
Thymic aplasia
65
What is DiGeorge syndrome?
deletion of chromosome 22, causing thymic aplasia
66
What is velocardiofacial syndrome?
Del of chr 22, causing palate, facial and cardiac defects
67
What are the fat soluble vitamins?
A D E K
68
Vitamin B1 = ?
Thiamine
69
Vitamin B2 = ?
riboflavin
70
Vitamin B3 = ?
Niacin
71
Vitamin B5 = ?
Pantothenic acid
72
Vitamin B6 = ?
Pyridoxine
73
Vitamin B7 = ?
Biotin
74
Vitamin B9 = ?
Folate
75
Vitamin B12 = ?
Cobalamin
76
Which two vitamins are stored in the liver, and are thus not washed out easily?
B12 and B9

FA Review (22 decks)

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