Genovariation and identification of some polymorphism loci of Megsin gene in Chinese Han population

    XIA Yunª²Feng, LI Youª²Ji, HUANG Shuang, HUANG Weiª²Jun, XUE Chao, YANG Nianª²Sheng, Lai Kar N, Patrick H Maxwell, WANG Yiª²Ming

    1Department of Nephrology, First Affiliated Hospital, 2Department of Medical Genetics, Sun Yatª²sen University, Guangzhou 510080, China, 3Department of Internal Medicine, Queen Marry Hospital, University of Hong Kong, Hong Kong, China, 4Department of Medicine, Hammersmith Hospital, Imperial College, London, UK

    ¡¾Abstract¡¿ AIM: To investigate the genovariation of Megsin in Chinese Han population and to identify some single nucleotide polymorphism (SNP) suitable for the association study in IgA nephropathy (IgAN). METHODS: SNPs of Megsin gene were chosen from different functional regions according to GenBank. Their genotypes in IgAN patients and normal controls were determined by polymerase chain reactionª²restriction fragment length polymorphism (PCRª²RFLP) and direct sequencing. Heterozygosity of each SNP was calculated and compared between IgAN patients and normal controls. RESULTS: In the 12 SNPs chosen from GenBank, 6 were confirmed with polymorphism and 6 were found not with polymorphism. Two novel SNPs were found in the fifth intron of Megsin gene by direct sequencing. In 8 SNPs, 3 were with heterozygosity, less than 10% and 5 more than 10%, but no statistical difference was found in heterozygote percentages between IgAN patients and normal controls(P>0.05).CONCLUSION: There is much difference in genovariation of Megsin between Chinese Han population and Caucasian population, which may be associated with the high incidence of IgAN in Chinese Han population. ......