title: [Mutation analysis of a Uighur family with epidermolytic palmoplantar keratoderma].
abstract: OBJECTIVE
  To map and identify the disease gene for the epidermolytic palmoplantar keratoderma (EPPK) in a Uighur family of China.
  
  
  METHODS
  Blood samples were collected and genomic DNA was extracted from 48 members of the Xinjiang Uighur family. Six microsatellite repeat sequences on chromosome region 17q12-q21 and 12q13 were selected based on the two known candidate genes KRT9 and KRT1. Two-point linkage analysis and haplotype analysis were performed. Exons and their flanking intronic sequence of the KRT9 gene were amplified by polymerase chain reaction (PCR) and sequenced.
  
  
  RESULTS
  Data from the marker D17S1787 suggested linkage and yielded a Lod score of 8.65 at theta=0 by using MLINK software. Genotypes and haplotypes were acquired. The disease gene of the EPPK family is located between markers 17/TG/36620115 and D17S846. Chromosome 12q13 region was excluded with the negative Lod score obtained in marker D12S96 (Lod=-infinity at theta=0). No pathogenic mutation was detected in the KRT9 gene.
  
  
  CONCLUSIONS
  The disease gene of the EPPK family is located on chromosome region 17q21.2. The keratin 9 gene might not be the disease gene.
authors: Department of Dermatology, People's Hospital of Xinjing Uygur Autonomous Region, Urumqi, Xinjiang, 830001 PR China. drkangxj666@yahoo.com.cn
authors: Xiaohui
authors: X
authors: Tang
authors: Xiaojing
authors: X
authors: Kang
authors: Miao
authors: M
authors: Sun
authors: Nuer
authors: N
authors: Dili
authors: Yuhong
authors: Y
authors: He
authors: Xiujuan
authors: X
authors: Wu
authors: Jianyong
authors: J
authors: Liu
authors: Weidong
authors: W
authors: Wu
authors: Xiongming
authors: X
authors: Pu
mesh_terms: D002681:China; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D005260:Female; D006801:Humans; D053556:Keratin-1 / Q000235:genetics; D053534:Keratin-9 / Q000235:genetics; D053546:Keratoderma, Palmoplantar, Epidermolytic / Q000208:ethnology / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D010375:Pedigree
chemical_list: C491616:KRT1 protein, human; C507440:KRT9 protein, human; D053556:Keratin-1; D053534:Keratin-9