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Flashcards in Genetic Pearls Deck (32):
1

Name 4 autosomal recessive conditions

DD, Friedereich's ataxia, OI (type II and III), McKusic metaphyseal dysplasia

2

Name 2 X-linked recessive conditions

- SED tarda

- CMT (20%) connexin gene

3

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

4

Myxoid chondrosarcoma translocation

(9:22)

EWS-CHN fusion protein

5

Ewing's translocation

(11:22)

EWS-FLI fusion protein

6

Clear cell csarcoma translocation

(12:22)

EWS-ATF1 fusion protein

nests on histo

A image thumb
7

Myxoid liposarcoma translocation

(12:16)

TLS-CHOP

8

Synovial sarcoma translocation

(X:18)

SYT-SSX1,2, or 4

9

Rhabdomyosarcoma translocation

(2:13)

Pax3-FKHR

10

Name 2 tumor suppressor genes

Rb1 and p53

11

colorectal carcinoma antigen

CEA

12

 pancreatic cancer

CA 19-9

13

ovarian cancer

CA 125

14

breast cancer antigen

CA 15-3

15

hepatocellular carcinomas

AFP (seen in many)

16

Achondroplasia

FGFR3

17

Apert Syndrome

FGFR2

18

Autosomal dominant CMT (80%)

PMP22

19

Pseudoachondroplasia defect

COMP

20

SED congenita AND tarda defect

COL2A1 (type II collagen)

21

Kniest's Syndrome

Type II collagen

22

MED - Type I defect

COMP

23

MED - Type II defect

Type IX collage (Col9A2) (affects type II collagen as link protein)

24

Jansen's metaphyseal chondrodysplasia defect

PTHrP

25

Schmid's metaphyseal chondrodysplasia defect

Type X collagen (Col10A1)

26

Cleidocranial dysplasia gene

Runx2 (CBFA-1)

27

Osteogenesis Imperfecta

COL1A1/2 (Type I collagen)

28

diastrophic dysplaisa gene

sulfate transporter gene (DTD)

29

Friedreich's Ataxia defect

frataxin

30

McKusick metaphyseal dysplasia defect

RMRP gene

31

What is the most common genetic disorder caused by a new mutation of a single gene?

NF type 1

32

X-linked recessive CMT (20%)

connexin