code ATP gated Cl- channel - secrete Cl in lung and GI tract - reabsorb Cl sweat glands

Genetics II Flashcards by Matt Stanton

auto recessive

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

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cystic fibrosis

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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CFTR

code ATP gated Cl- channel

secrete Cl in lung and GI tract
reabsorb Cl sweat glands

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lytes of CF

contraction alkalosis
hypoK

H2O/Na loss and renal K/H wasting

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pueumonia CF

pseudomonas

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complications of CF

chronic bronchitis
bronchiectasis
malabsorption
nasal polyps
meconium ileus newborn

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meconium ileus newborn

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N-acetyl cysteine

mucolytic

cleave disulfide bone within mucus glycoproteins

tx of CF mucus

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dornase alpha

DNAse

clear leukocytic debris in CF

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lesch nyhan

X-linked recessive

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hemophilia A and B

X-linked recessive

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duchenne

X-linked recessive

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ornithine transcarbamoylase deficiency

X-linked recessive

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G6PD deficiency

X-linked recessive

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duchenne muscular dystrophy

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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becker muscular dystrophy

X-linked - non frameshift - insertion in dystrophin gene

partial functioning dystrophin

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myotonic type I muscular dystrophy

auto dom

CTG trinucleotide repeat

DMPK gene

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

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fragile X syndrome

X-linked
-methylation of FMR1 gene

enlarged testes
long face large jaw
alrge ears
mitral valve prolapse

CGG repeats

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huntington repeats

CAG

fragile X repeats

CGG

friedrich ataxis

GAA

myotonic repeats

CTG

down syndrome

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

majority - meiotic nondisjunction - advanced mother age

quad screen down syndrome

decreased AFP
increased beta-hCG
decreased estriol
increased inhibin A

edward syndrome

trisomy 18 rocker bottom feet micrognathia - small jaw low set ears prominent occiput death within 1 year

quad screen edward

decreased AFP decreased beta-hCG decreased estriol decreased inhibin A

patau syndrome

trisomy 13 ``` intellect disability microphthalmia microcephaly cleft lip and palate holoprosencephaly polydactyly ``` death within 1 year

chromosome 3

VHL | renal cell carcinoma

chromosome 4

ADPKD with PKD2 huntington

chromosome 5

cri du chat familial adenomatous polyposis

chromsome 7

williams syndrome cystic fibrosis

chromsome 9

friedrich ataxia

chromsome 11

wilms tumor

chromosome 13

wilson disease patau syndrome

chromosome 15

angel man syndrome prader willi

chromosome 16

ADPKD with PKD1

chromosome 17

NF1

chromosome 18

edwards

chromosome 21

down syndrome

chromosome 22

NF2 digeorge

X chromosome

fragile X X-linked agammaglobulinemia kartagener - XXY

robertsonian translocation

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

cri du chat syndrome

microdeletion - short arm chromosome 5 microcephaly, moderate to severe intellect disability high pitched crying, mewing epicanthal folds cardiac abnormalities - VSD

williams syndrome

microdeletion - long arm chromosome 7 -elastin gene ``` elfin facies intellect disability hyperCa well developed verbal skills friendly to syndrome cardiovasc problems ```

22q11 deletion

CATCH-22 digeorge

digeorge syndrome

CATCH 22 abnormal development 3rd and 4th branchial pouches

CATCH 22

``` cleft palate abnormal facie thymic asplasia - T cell deficiency cardiac defect hypocalcemia - parathyroid aplasia ``` microdeletion 22q11