Genetic Pearls Flashcards
Name 4 autosomal recessive conditions
DD
Friedereich’s ataxia
OI (type II and III)
McKusic metaphyseal dysplasia
Name 2 X-linked recessive conditions
- SED tarda
- CMT (20%) connexin gene
Name 12 autosomal dominant conditions
- Achondroplasa/pseudoachon
- CMT (80%), SED congenita
- Jansen and Schmid’s metaphyseal chondrodysp
- MED I/II
- OI (I and IV) and Kniest
- Apert and cleidocranial
Myxoid chondrosarcoma translocation
(9:22)
EWS-CHN fusion protein
Ewing’s translocation
(11:22)
EWS-FLI fusion protein
Clear cell csarcoma translocation
(12:22)
EWS-ATF1 fusion protein
nests on histo
Myxoid liposarcoma translocation
(12:16)
TLS-CHOP
Synovial sarcoma translocation
(X:18)
SYT-SSX1,2, or 4
Rhabdomyosarcoma translocation
(2:13)
Pax3-FKHR
Name 2 tumor suppressor genes
Rb1 and p53
colorectal carcinoma antigen
CEA
pancreatic cancer
CA 19-9
ovarian cancer
CA 125
breast cancer antigen
CA 15-3
hepatocellular carcinomas
AFP (seen in many)
Achondroplasia
FGFR3
Apert Syndrome
FGFR2
Autosomal dominant CMT (80%)
PMP22
Pseudoachondroplasia defect
COMP
SED congenita AND tarda defect
COL2A1 (type II collagen)
Kniest’s Syndrome
Type II collagen
MED - Type I defect
COMP
MED - Type II defect
Type IX collage (Col9A2) (affects type II collagen as link protein)
Jansen’s metaphyseal chondrodysplasia defect
PTHrP
Schmid’s metaphyseal chondrodysplasia defect
Type X collagen (Col10A1)
Cleidocranial dysplasia gene
Runx2 (CBFA-1)
Osteogenesis Imperfecta
COL1A1/2 (Type I collagen)
diastrophic dysplaisa gene
sulfate transporter gene (DTD)
Friedreich’s Ataxia defect
frataxin
McKusick metaphyseal dysplasia defect
RMRP gene
What is the most common genetic disorder caused by a new mutation of a single gene?
NF type 1
X-linked recessive CMT (20%)
connexin
