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Flashcards in Genes Deck (14):
1

CNGA3

Achromatopsia also cone-rod dystrophy

2

achromatopsia genes

CNGA3, CNGB3, GNAT2, PDE6C, orPDE6H.

3

RP genes (if AD, AR, XL)

  • AR: (70%)
    • Ush2A &
    • ABCA4
  • AD: 15%
    • Rho​
  • XL: 15%
    • RPGR (80%) most severe early onset
    • RP2 (10%)

ALSO: 

  • RDS
  • RP1
  • C1QTNF5
  • CNGA1
  • CRB1
  • NR2E3
  • PDE6B
  • RDH12
  • RPE65

4

what genes cause Stargardts?

  • if AR:ABCA4
  • if AD: ELOV4

5

which are the LCA genes?

  • RPE65
  • CEP290
  • CRB1
  • CRx
  • GUCY2D
  • LCA5
  • LCA9

6

which genes cause achromatopsia?

  • CNGB3
  • CNGA3
  • GNAT
  • PDE6C

7

wich genes cause cone-rod dystrophy?

  • ABCA4
  • CRX
  • GUCY2D
  • GUCA1A

8

genes that cause Usher type I

  • MYO7A
  • USH1C
  • USHE1G
  • CDH23

9

genes that cause Usher type II

  • USH2A
  • GPR98

10

genes that cause Usher type III

  • CLRN1
  • ABHD12

11

what is the MIM number?

numerical taxonomic system for inherited disorders.

Mendelian Inheritance in Man

12

best disease gene?

BEST1 (AKA VMD2)

chromosome 11q12.3

encodes for the transmembrane protein bestrophin 1

13

RPGR function?

what diseases it cause?

location?

  • escential for normal vision
  • role in cilia function
  • produces RPGR protein 
    • several isoforms
    • one of them has the ORF15 exon
    • this is expressed in the retina
  • Diseases:
    • CRD
    • RP
  • Xp11.4

14

what is the most common cause of RP:

  • AD: RHO (30%)
  • AR: USH2A (15% ,there are more than 35 genes)
  • XL-RP:  RPGR (70-90%) and RP2 (10-20%) (majority of cases but there are 4 more genes) - OFD1 (rare)