Genetics Diseases Flashcards
achondroplasia
FGF receptor
AD
marfan syndrome
fibrillin
AD
tuberous sclerosis
TSC1 or TSC2
AD
neurofibromatosis type 1 (NF-1)
NF1 = GTPase activating protein
AD
cystic fibrosis
CFTR active
AR
PKU
phenyalanine hydroxylase
AR
sickle cell
AA change in beta-globin chain
AR
hemophilia A
factor VIII gene
X-linked
duchenne muscular dystrophy
deletions in DMD
X-linked
alport syndrome
collagen gene
X-linked
ornithine transcarbamoylase deficiency
error in urea cycle
x-linked
MELAS
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
mutation in mito tRNA gene
mitochondiral disorder
kearn-sayre disease
deletion of part of mito genome
muscle weakness
cerebellar damage
HF
MERRF
MERRF syndrome (or myoclonic epilepsy with ragged red fibers)
mutation in mito tRNA gene
ragged fibers
patau
trisomy 13
cleft lip and palate
severe nervouse
polydactyly 1/10,000
edward syndrome
trisomy 18
CNS
heart defects
1/6,000
down syndome
trisomy 21
hypotonia
developmental delay
mental retard
heart
1/800
turner syndome
45, X
short
amenorrhea
lack of secondary sex
1/5,000
klinefelter syndrome
47, XXY
small testes infertile tall learning issues 1/1,000
triple X
47, XXX
learning issues
no major physical shit
1/1,000
XYY
paternal nondisjunction
learning and behavioral issues
more aggressive
1/1,000
prader willi
15q11 paternal deletion
hypotonia
eating disorder
obesity
mental retard
example of paternal imprinting
- dad’s copt is missing or there are 2 of mom’s copies
angelmann
15q11 maternal deletion
hypotonia
seizures
inappropriate laughter
no coordinated
mom’s copy is missing or there are 2 of dad’s
DiGeorge
22q11 deletion
congenital heart defect
hypoplasia of parathyroid and thyroid
facial abnormalities
