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FA Review > More genetics > Flashcards

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
Q

What is the genetic cause of familial adenomatous polyposis (HNPCC)? Which chromosome is this on?

A

Mutation of APC gene on chromosome 5

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26
Q

What is the genetic defect in familial hypercholesterolemia?

A

Defective LDL receptor

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27
Q

What is hereditary hemorrhagic telangiectasia?

A

Inherited disorder of blood vessels

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28
Q

What is hereditary spherocytosis?

A

Spheroid erythrocytes due to spectrin or ankyrin defect

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29
Q

What is the genetic bases of huntington’s disease?

A

CAG repeats on chromosome 4

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30
Q

What are the two neurotransmitters in the brain that are decreased in Huntington’s? What two areas of the brain are most affected?

A

GABA and ACh

Caudate nucleus and putamen

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31
Q

What is multiple endocrine neoplasias (MEN)?

A

Familial tumors of endocrine glands. Associated with the RET gene

32
Q

What is the genetic basis for neurofibromatosis 1?

A

NF1 gene mutated on chromosome 17

33
Q

What is the genetic basis for neurofibromatosis 2?

A

NF2 gene mutated on chromosome 22

34
Q

What is tuberous sclerosis?

A

Neurocutaneous disorder with multi-organ system involvement.

35
Q

What is the von hippel-Lindau disease?

A

Deletion of VHL gene on chromosome 3

36
Q

Are mucopolysaccharidoses usually AD or AR in inheritance pattern?

A

AR

37
Q

What is the genetic basis for CF?

A

Mutation in CFTR gene on chromosome 7

38
Q

What does the CFTR gene code for?

A

A Na/Cl channel

39
Q

What are the signs of CF? (3)

A

Salty baby
Contraction alkalosis
Hypokalemia

40
Q

DO CF patients present with hyperkalemia or hypokalemia?

A

Hypo

41
Q

What is the bacteria that CF patients are often infected with?

A

Pseudomonas Aeruginosa

42
Q

What is the treatment for CF?

A

N-acetylcysteine (loosens mucus plugs)

43
Q

What is Bruton’s Agammaglobulinemia? What is its mode of inheritance?

A

X-linked recessive lack of B cells, resulting in no antibody production

44
Q

What is Fabry’s disease? What is its mode of inheritance?

A

X-linked recessive lysosomal storage disease

45
Q

What is Wiskott Aldrich syndrome? What is its mode of inheritance?

A

X-linked recessive thrombocytopenia

46
Q

What is G6PD deficiency? What is its mode of inheritance?

A

X-linked recessive lack of glucose-6-phosphate dehydrogenase, resulting in hemolytic anemia d/t loss of glycolysis in RBCs

47
Q

What is Lesch Nyhan syndrome? What is its mode of inheritance?

A

X-linked recessive loss of HGPRTase used in purine recycling

48
Q

What is the mode of inheritance of Duchenne and Becker muscular dystrophy?

A

X-linked recessive lack of dystrophin

49
Q

What is Hunter Syndrome? What is its mode of inheritance?

A

X-linked recessive MPS II from a lack of iduronate sulfatase II

50
Q

What is Ornithine transcarbamylase deficiency? What is its mode of inheritance?

A

X-linked recessive lack defect in urea cycle (final enzyme in the urea cycle)

51
Q

Early onset muscle weakness that begins at the pelvic girdle and ascends superiorly = ?

A

Duchenne/becker muscular dystrophy

52
Q

Both Duchenne’s and Becker’s muscular dystrophy are x-linked recessive inherited disorders. What is the difference between the two?

A

Duchenne’s is frameshift

Becker’s is point mutation

53
Q

What is the genetic basis for myotonic type 1 muscular dystrophy? (protein + Gene)

A

CTG trinucleotide repeat in DMPK gene

54
Q

What is fragile X syndrome?

A

Trinucleotide repeat in X chromosome, resulting in MR

55
Q

What is the trinucleotide repeat sequence for Huntington’s? Friedreich ataxia? Myotonic dystrophy? Fragile X?

A

Huntington’s = CAG
Friedreich ataxia = GAA
Myotonic dystrophy = CTG
Fragile X = CGG

56
Q

Trisomy 13 = ?

A

Patau

57
Q

Trisomy 18 = ?

A

Edwards

58
Q

What are the three P’s of Patau’s?

A

cleft Palate
holoProsencephaly
Polydactyly

59
Q

What are the symptoms of Edward’s syndrome? (3)

A

MR
Low set ears
Rocker bottom feet

60
Q

What is the Robertsonian translocation?

A

A non-reciprocal translocation between chromosomes 13, 14, 15, 21, or 22

61
Q

What is Cri0du-chat syndrome?

A

Congenital microdeletion of short arm of chromosome 5 , causing cat-like cry

62
Q

What is William’s syndrome?

A

Congenital microdeletion of long are of chromosome 7

63
Q

What are the symptoms of 22q11 del syndromes?

A 
Cleft palate
Abnormal Facies
Thymic aplasia
Hypocalcemia
Cardiac defects
64
Q

What causes the hypocalcemia with a deletion of chromeonse 22?

A

Thymic aplasia

65
Q

What is DiGeorge syndrome?

A

deletion of chromosome 22, causing thymic aplasia

66
Q

What is velocardiofacial syndrome?

A

Del of chr 22, causing palate, facial and cardiac defects

67
Q

What are the fat soluble vitamins?

A

A
D
E
K

68
Q

Vitamin B1 = ?

A

Thiamine

69
Q

Vitamin B2 = ?

A

riboflavin

70
Q

Vitamin B3 = ?

A

Niacin

71
Q

Vitamin B5 = ?

A

Pantothenic acid

72
Q

Vitamin B6 = ?

A

Pyridoxine

73
Q

Vitamin B7 = ?

A

Biotin

74
Q

Vitamin B9 = ?

A

Folate

75
Q

Vitamin B12 = ?

A

Cobalamin

76
Q

Which two vitamins are stored in the liver, and are thus not washed out easily?

A

B12 and B9

FA Review (22 decks)

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