The Genetic Study Of Epidermolytic Palmoplantar Keratoderma In A Uighur Family

Objective : To localize and identify the disease gene for the Epidermolytic Palmoplantar Keratoderma in a Uighur family. 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 was selected. Two-point linkage analysis and haplotype analysis were performed. Exons and their flanking intronic sequence of KRT9, KRT14, KRT16 and KRT17 genes were amplified by polymerase chain reaction (PCR) and sequenced. Results:The marker D17S1787 suggested linkage and yielded a LOD score of 8.65 atθ=0 by means of the MLINK software. Genotype and haplotype were acquired. The disease gene of the EPPK is located between marker 17/TG/36620115 and D17S846. Chromosome 12q13 were excluded with the negative LOD score found in the marker D12S96(LOD =-∞atθ=0). There is not pathogenic mutation found in the genes keratin 9, keratin 14, keratin 16 and keratin 17. Conclusion:The disease gene of the EPPK is located on chromosome 17q21.2. The keratin 9 keratin 14, keratin 16 and keratin 17 might not be the disease gene.