Mutation analysis of a Uighur family with epidermolytic palmoplantar keratoderma.
- Author:
Xiaohui TANG
1
;
Xiaojing KANG
;
Miao SUN
;
Nuer DILI
;
Yuhong HE
;
Xiujuan WU
;
Jianyong LIU
;
Weidong WU
;
Xiongming PU
Author Information
- Publication Type:Journal Article
- MeSH: China; Chromosomes, Human, Pair 17; genetics; Female; Humans; Keratin-1; genetics; Keratin-9; genetics; Keratoderma, Palmoplantar, Epidermolytic; ethnology; genetics; Male; Microsatellite Repeats; Mutation; Pedigree
- From: Chinese Journal of Medical Genetics 2009;26(6):615-619
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo map and identify the disease gene for the epidermolytic palmoplantar keratoderma (EPPK) in a Uighur family of China.
METHODSBlood 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.
RESULTSData 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.
CONCLUSIONThe disease gene of the EPPK family is located on chromosome region 17q21.2. The keratin 9 gene might not be the disease gene.
