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A Gene Locus Responsible for Dyschromatosis Symmetrica Hereditaria (DSH) Maps to Chromosome 6q24.2-q25.2

Published on Aug 1, 2003in American Journal of Human Genetics9.92
· DOI :10.1086/377007
Qinghe Xing26
Estimated H-index: 26
(CAS: Chinese Academy of Sciences),
Xiangdong Chen3
Estimated H-index: 3
+ 8 AuthorsLin He56
Estimated H-index: 56
(CAS: Chinese Academy of Sciences)
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Abstract
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 [Zmax] = 7.28 at recombination fraction [θ] = 0.00) and pedigree B (Zmax = 2.41 at θ = 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 Zmax = 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.
  • References (23)
  • Citations (42)
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References23
Newest
#1Motonobu Nakamura (Kyoto University)H-Index: 25
#2Desmond J. Tobin (University of Bradford)H-Index: 58
Last.Ralf Paus (UHH: University of Hamburg)H-Index: 91
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#1Anne Stary (CNRS: Centre national de la recherche scientifique)H-Index: 23
#2Alain Sarasin (CNRS: Centre national de la recherche scientifique)H-Index: 61
#1Bo Gao (CAS: Chinese Academy of Sciences)H-Index: 17
#2Jingzhi Guo (Boston Children's Hospital)H-Index: 2
Last.Lin He (CAS: Chinese Academy of Sciences)H-Index: 5
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#1Xinping Yang (SJTU: Shanghai Jiao Tong University)H-Index: 2
#2Chaowen SheH-Index: 2
Last.Lin He (SJTU: Shanghai Jiao Tong University)H-Index: 56
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#1Hemanth Kumar (JIPMER: Jawaharlal Institute of Postgraduate Medical Education and Research)H-Index: 2
#2Devinder Mohan Thappa (JIPMER: Jawaharlal Institute of Postgraduate Medical Education and Research)H-Index: 23
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#1Ding'an Zhou (CQMU: Chongqing Medical University)H-Index: 2
#2Zhiyun Wei (SJTU: Shanghai Jiao Tong University)H-Index: 16
Last.Jing Wang (CQMU: Chongqing Medical University)H-Index: 1
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#1Yiqun G. Shellman (Anschutz Medical Campus)H-Index: 14
#2K. Lambert (Anschutz Medical Campus)H-Index: 3
Last.Marian Rewers (Anschutz Medical Campus)H-Index: 79
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#1Chaoxia Lu (Peking Union Medical College)H-Index: 2
#2Jie Liu (Peking Union Medical College Hospital)H-Index: 2
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#1Xudong Liu (SJTU: Shanghai Jiao Tong University)H-Index: 2
#2Linghan Gao (SJTU: Shanghai Jiao Tong University)H-Index: 11
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