Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1.
Disseminated superficial actinic porokeratosis is an autosomal dominant cutaneous disorder characterized by many uniformly small, minimal, annular, anhidrotic, and keratotic lesions. The genetic basis for this disease is unknown. Using a genomewide search in a large Chinese family, we identified a locus at chromosome 12q23.2-24. 1 responsible for disseminated superficial actinic porokeratosis. The fine mapping study indicates that the disseminated superficial actinic porokeratosis gene is located within a 9.6 cM region between markers D12S1727 and D12S1605, with a maximum two-point LOD score of 20.53 (theta = 0.00) at D12S78. This is the first locus identified for a genetic disease where the major phenotype is porokeratosis. The study provides a map location for isolation of a gene causing disseminated superficial actinic porokeratosis.
Xia
J H
JH
National Laboratory of Medical Genetics of China, Department of Neurology, Xiangya Hospital, Hunan Medical University, Changsha, China. nlmglcy@public.cs.hn.cn
Yang
Y F
YF
Deng
H
H
Tang
B S
BS
Tang
D S
DS
He
Y G
YG
Xia
K
K
Chen
S X
SX
Li
Y X
YX
Pan
Q
Q
Long
Z G
ZG
Dai
H P
HP
Liao
X D
XD
Xiao
J F
JF
Liu
Z R
ZR
Lu
C Y
CY
Yu
K P
KP
Deng
H X
HX
D002681:China; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D006801:Humans; D008126:Lod Score; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree; D017499:Porokeratosis / Q000235:genetics*; D011995:Recombination, Genetic