Identification of a locus for punctate palmoplantar keratodermas at chromosome 8q24.13-8q24.21.
Punctate palmoplantar keratodermas (PPK) is a rare autosomal dominant cutaneous disorder characterized by numerous hyperkeratotic papules that are irregularly distributed on the palms and soles. The genetic basis for this disease is unknown. We performed a genome-wide search in two Chinese families with punctate PPK to map the chromosome location of the responsible gene. We identified a locus at chromosome 8q24.13-8q24.21 with a cumulative maximum two-point LOD score of 5.41 at markers D8S1793 and D8S1774 (at recombination fraction theta=0.00). Haplotype analysis indicated that the disease gene is located within 9.20 cM region between markers D8S1804 and D8S1720. It is the first locus identified for the punctate PPK. This study provides a map location for isolation of a disease gene-causing punctate PPK.
Zhang
Xue-Jun
XJ
Institute of Dermatology & Department of Dermatology at No. 1 Hospital, Anhui Medical University, Hefei, China. ayzxj@mail.hf.ah.cn
Li
Ming
M
Gao
Tian-Wen
TW
He
Ping-Ping
PP
Wei
Sheng-Cai
SC
Liu
Jiang-Bo
JB
Li
Cheng-Rang
CR
Cui
Yong
Y
Yang
Sen
S
Yuan
Wen-Tao
WT
Li
Chun-Ying
CY
Liu
Yu-Feng
YF
Xu
Shi-Jie
SJ
Huang
Wei
W
D044466:Asian People / Q000235:genetics; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D005192:Family Health; D005260:Female; D006239:Haplotypes; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008126:Lod Score; D008297:Male