A gene locus responsible for dyschromatosis symmetrica hereditaria (DSH) maps to chromosome 6q24.2-q25.2.
Dyschromatosis symmetrica hereditaria (DSH) is a hereditary skin disease characterized by the presence of hyperpigmented and hypopigmented macules on extremities and face. The gene, or even its chromosomal location, for DSH has not yet been identified. In this study, two Chinese families with DSH were identified and subjected to a genomewide screen for linkage analysis. Two-point linkage analysis for pedigree A (maximum LOD score [Z(max)] = 7.28 at recombination fraction [theta] = 0.00) and pedigree B (Z(max) = 2.41 at theta = 0.00) mapped the locus for DSH in the two families to chromosome 6q. Subsequent multipoint analysis of the two families also provided additional support for the DSH gene being located within the region 6q24.2-q25.2, with Z(max) = 10.64. Haplotype analysis confined the locus within an interval of 10.2 Mbp, flanked by markers D6S1703 and D6S1708. The two families had no identical haplotype within the defined region, which suggests that the two families were different in origin. Further work on identification of the gene for DSH will open new avenues to exploration of the genetics of pigmentation.
Xing
Qing-he
QH
Institute of Nutrition Science, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, and Bio-X Life Science Research Center, Shanghai Jiao Tong University, Shanghai, China.
Wang
Ming-tai
MT
Chen
Xiang-dong
XD
Feng
Guo-yin
GY
Ji
Hong-yun
HY
Yang
Jian-dong
JD
Gao
Jian-jun
JJ
Qin
Wei
W
Qian
Xue-qing
XQ
Wu
Sheng-nan
SN
He
Lin
L
D002681:China; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D009456:Neurofibromatosis 1 / Q000235:genetics; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*
D005819:Genetic Markers