Disease Scripts

Question 1

Achondroplasia is caused by a mutation in the ______ gene resulting in a ___380_____ substitution. The mutation comes from the ________ side of the family

Answer 1

FGFR3 gene

Gly380Arg

Paternal

Question 2

When combined with syndromic deafness, retinitis pigmentosa (blindness) suggests ________ syndrome

Answer 2

Usher

Question 3

When combined with syndromic deafness, cardiac arrhythmia or sudden death suggests ________ syndrome

Answer 3

Jervell and Lang-Nielson

BYU cougars give me a heart problems. (Jervell like Lavelle, Nielson- like the Elder)

Question 4

Most genetic, nonsyndromal recessive deafness is due to a mutation in ________

Answer 4

GJB2 (DFNB1)

Good Job Buddy! (Say it twice cause he is deaf)

DeaF New Born=DFNB

Question 5

Premutations in the FMR1 gene are associated with _______

Answer 5

Inc RNA production.

GAIN OF FUNCTION