Basic & Clinical Medicine ›› 2007, Vol. 27 ›› Issue (10): 1127-1130.

• 研究论文 • Previous Articles     Next Articles

Localization of the disease-causing gene responsible for hereditary palmoplantar keratoderma at chromosome

  

  • Received:2006-11-13 Revised:2007-01-18 Online:2007-10-25 Published:2007-10-25

Abstract: Objective To identify a locus at chromosome responsible for hereditary palmoplantar keratoderma of three Chinese pedigrees. Methods The genome scan was conducted using microsatellite markers on chromosome 12 (D12S85、D12S368、D12S83、D12S345)and 17 (D17S1868、D17S787、D17S1857、D17S798、D17S944、D17S949) respectively on the ABI 3100 Genetic Analyzer (Applied Biosystems). Two-point LOD score was calculated using the MLINK program of the LINKAGE software package, version 5.1. Results The maximum two-point LOD score 6.59 and 5.96 at q=0.1 were obtained at D17S1868 and D17S787 on chromosome 17q12-q21. It is a support evidence of linkage between this disease and KRT9 which has been mapped within the region. Conclusion There was a locus responsible for this disease on chromosome 17q12-q21.