Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1.
BACKGROUND
Our previous study has identified two loci for disseminated superficial actinic porokeratosis (DSAP), but the genes responsible are still unknown.


OBJECTIVE
To narrow down the candidate regions and to assess candidate genes.


METHODS
A genome-wide scan and linkage analysis were carried out in a newly collected five-generation Chinese family with DSAP. In addition, six candidate genes were screened for possible DSAP-associated mutations.


RESULTS
DSAP in this family was associated with chromosome 12q. Fine mapping and haplotype construction refined the DSAP1 locus to a 4.4-cM interval. No disease-associated mutation was detected in CRY1, C4ST1, TXNRD1, HCF2, CMKLR1 or KIAA0789 genes.


CONCLUSIONS
The DSAP1 locus was localized to a 4.4-cM interval at chromosome 12q23.2-24.1. CRY1, C4ST1, TXNRD1, HCF2, CMKLR1 and KIAA0789 genes were not associated with DSAP1.
Wu
L Q
LQ
National Laboratory of Medical Genetics, Xiangya Second Hospital, Central South University, Changsha, Hunan 410078, China.
Yang
Y F
YF
Zheng
D
D
Deng
H
H
Pan
Q
Q
Zhao
T L
TL
Cai
F
F
Feng
Y
Y
Long
Z G
ZG
Dai
H P
HP
Tang
B S
BS
Yang
Y J
YJ
Deng
H X
HX
Xia
K
K
Xia
J H
JH
D000293:Adolescent; D000328:Adult; D002648:Child; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D008126:Lod Score; D008297:Male; D009154:Mutation; D010375:Pedigree; D017499:Porokeratosis / Q000235:genetics*
D005819:Genetic Markers