[DSRAD gene mutations in three families with dyschromatosis symmetrica hereditaria].
OBJECTIVE
To identify the DSRAD gene; mutations in three Chinese families with dyschromatosis symmetrica hereditaria.


METHODS
All exons of DSRAD gene were analyzed in each person of these families with PCR-DNA sequencing. DNA samples from 100 unrelated, normally pigmented adult individuals were also included as control.


RESULTS
We identified a missense mutation of C3220T (R1074C) in DSRAD gene in family A, and another missense mutation of G3325T (D1109Y) in DSRAD gene in family B and C. No same mutation was found in unaffected individuals in the families and the controls.


CONCLUSIONS
We found two special missense mutations in DSRAD gene in three families of dyschromatosis symmetrica hereditaria. These mutations may impair DSRAD protein function, and as a consequence, cause skin dyschromatosis.
Department of Dermatology, Peking University First Hospital, Beijing 100034, China. yongyang81@yahoo.com.cn
Yong
Y
Yang
Song
S
Li
Hang
H
Li
Ding-fang
DF
Bu
Ke
K
Wang
Ping
P
Tu
Xue-jun
XJ
Zhu
D000243:Adenosine Deaminase / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010859:Pigmentation Disorders / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D016601:RNA-Binding Proteins
D016601:RNA-Binding Proteins; C567955:ADARB1 protein, human; D000243:Adenosine Deaminase