Genetics II Flashcards
auto recessive
albinism ARPKD cystic fibrosis glycogen storage disease hemochromatosis kartagener PKU sickle cell wilson thalassemias
cystic fibrosis
auto recessive - defective CFTR gene chromosome 7
-often deletion Phe508
infertile male - no vas deferens
subfertile female - thick mucus and amenorrhea
CFTR
code ATP gated Cl- channel
- secrete Cl in lung and GI tract
- reabsorb Cl sweat glands
lytes of CF
contraction alkalosis
hypoK
H2O/Na loss and renal K/H wasting
pueumonia CF
pseudomonas
complications of CF
chronic bronchitis bronchiectasis malabsorption nasal polyps meconium ileus newborn
meconium ileus newborn
CF
N-acetyl cysteine
mucolytic
cleave disulfide bone within mucus glycoproteins
tx of CF mucus
dornase alpha
DNAse
clear leukocytic debris in CF
lesch nyhan
X-linked recessive
hemophilia A and B
X-linked recessive
duchenne
X-linked recessive
ornithine transcarbamoylase deficiency
X-linked recessive
G6PD deficiency
X-linked recessive
duchenne muscular dystrophy
frameshift mutation
- truncated dystrophin protein - inactive
- inhibit muscle regeneration
pseudohypertrophy calves
gower maneuver - hands to stand up
waddling gait
dilated cardiomyoapthy
becker muscular dystrophy
X-linked - non frameshift - insertion in dystrophin gene
partial functioning dystrophin
myotonic type I muscular dystrophy
auto dom
CTG trinucleotide repeat
DMPK gene
myotonia, muscle wasting, cataract, testicular atrophy, frontal balding, arrhythmia
fragile X syndrome
X-linked
-methylation of FMR1 gene
enlarged testes
long face large jaw
alrge ears
mitral valve prolapse
CGG repeats
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
