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board review - b - biochemistry > Genetics II > Flashcards

Genetics II Flashcards

1
Q

auto recessive

A 
albinism
ARPKD
cystic fibrosis
glycogen storage disease
hemochromatosis
kartagener
PKU
sickle cell
wilson
thalassemias
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2
Q

cystic fibrosis

A

auto recessive - defective CFTR gene chromosome 7
-often deletion Phe508

infertile male - no vas deferens
subfertile female - thick mucus and amenorrhea

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3
Q

CFTR

A

code ATP gated Cl- channel

  • secrete Cl in lung and GI tract
  • reabsorb Cl sweat glands
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4
Q

lytes of CF

A

contraction alkalosis
hypoK

H2O/Na loss and renal K/H wasting

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5
Q

pueumonia CF

A

pseudomonas

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6
Q

complications of CF

A 
chronic bronchitis
bronchiectasis
malabsorption
nasal polyps
meconium ileus newborn
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7
Q

meconium ileus newborn

A

CF

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8
Q

N-acetyl cysteine

A

mucolytic

cleave disulfide bone within mucus glycoproteins

tx of CF mucus

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9
Q

dornase alpha

A

DNAse

clear leukocytic debris in CF

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10
Q

lesch nyhan

A

X-linked recessive

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11
Q

hemophilia A and B

A

X-linked recessive

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12
Q

duchenne

A

X-linked recessive

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13
Q

ornithine transcarbamoylase deficiency

A

X-linked recessive

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14
Q

G6PD deficiency

A

X-linked recessive

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15
Q

duchenne muscular dystrophy

A

frameshift mutation

  • truncated dystrophin protein - inactive
  • inhibit muscle regeneration

pseudohypertrophy calves
gower maneuver - hands to stand up
waddling gait
dilated cardiomyoapthy

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16
Q

becker muscular dystrophy

A

X-linked - non frameshift - insertion in dystrophin gene

partial functioning dystrophin

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17
Q

myotonic type I muscular dystrophy

A

auto dom

CTG trinucleotide repeat

DMPK gene

myotonia, muscle wasting, cataract, testicular atrophy, frontal balding, arrhythmia

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18
Q

fragile X syndrome

A

X-linked
-methylation of FMR1 gene

enlarged testes
long face large jaw
alrge ears
mitral valve prolapse

CGG repeats

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19
Q

huntington repeats

A

CAG

20
Q

fragile X repeats

A

CGG

21
Q

friedrich ataxis

A

GAA

22
Q

myotonic repeats

A

CTG

23
Q

down syndrome

A 
trisomy 21
flat facies
single palmar crease
hirschspring dusease
ALL and AML
early onset alzheimers

majority - meiotic nondisjunction - advanced mother age

24
Q

quad screen down syndrome

A

decreased AFP
increased beta-hCG
decreased estriol
increased inhibin A

25
Q

edward syndrome

A

trisomy 18

rocker bottom feet
micrognathia - small jaw
low set ears
prominent occiput

death within 1 year

26
Q

quad screen edward

A

decreased AFP
decreased beta-hCG
decreased estriol
decreased inhibin A

27
Q

patau syndrome

A

trisomy 13

intellect disability
microphthalmia
microcephaly
cleft lip and palate
holoprosencephaly
polydactyly

death within 1 year

28
Q

chromosome 3

A

VHL

renal cell carcinoma

29
Q

chromosome 4

A

ADPKD with PKD2

huntington

30
Q

chromosome 5

A

cri du chat

familial adenomatous polyposis

31
Q

chromsome 7

A

williams syndrome

cystic fibrosis

32
Q

chromsome 9

A

friedrich ataxia

33
Q

chromsome 11

A

wilms tumor

34
Q

chromosome 13

A

wilson disease

patau syndrome

35
Q

chromosome 15

A

angel man syndrome

prader willi

36
Q

chromosome 16

A

ADPKD with PKD1

37
Q

chromosome 17

A

NF1

38
Q

chromosome 18

A

edwards

39
Q

chromosome 21

A

down syndrome

40
Q

chromosome 22

A

NF2

digeorge

41
Q

X chromosome

A

fragile X

X-linked agammaglobulinemia

kartagener - XXY

42
Q

robertsonian translocation

A

long arm of 2 chromosomes fuses and 2 short arms are lost

43
Q

cri du chat syndrome

A

microdeletion - short arm chromosome 5

microcephaly, moderate to severe intellect disability
high pitched crying, mewing
epicanthal folds
cardiac abnormalities - VSD

44
Q

williams syndrome

A

microdeletion - long arm chromosome 7
-elastin gene

elfin facies
intellect disability
hyperCa
well developed verbal skills
friendly to syndrome
cardiovasc problems
45
Q

22q11 deletion

A

CATCH-22

digeorge

46
Q

digeorge syndrome

A

CATCH 22

abnormal development 3rd and 4th branchial pouches

47
Q

CATCH 22

A 
cleft palate
abnormal facie
thymic asplasia - T cell deficiency
cardiac defect
hypocalcemia - parathyroid aplasia

microdeletion 22q11

board review - b - biochemistry (13 decks)

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