Mutation ofATP7B gene in Chinese People with Wilson Disease
We aim to identify the molecular defects in the ATP7B,which responsible for Wilson disease (WD), in eastern Chinese patients and attempt to assess the correlation between genotype, phenotype and laboratory features.Here we present the results of mutation analysis of the ATP7B gene by means of the direct sequencing of the 4, 7, 8 and 13 exons in the gene in 146 Han and one Uygur ethnic Chinese patients.The novel insertion mutation of c.2298_2299insC was first identified in Chinese patients.The rate of the most common Arg778Leu mutation in exon 8 was reach up to 40.70% of these Han Chinese patients.26 patients were homozygotes and 37 patients were heterozygotes for Arg778Leu.The rate of Pro992Leu mutation in exon 13 was 10.96% of these Chinese patients.two patients were homozygotes and 19 patients were heterozygotes for Pro992Leu.Three polymorphisms were also identified in patients and healthy controls.We first reported the presence of ATP7B mutations in Chinese Uygur ethnic patients and summarize our results here along with the previously reported findings.A significant correlation between genotype and phenotype was not found in 37 homozygotes and 52 heterozygotes for Arg778Leu, also in two patients were homozygotes and 19 patients were heterozygotes for Pro992Leu.
LIU Xiaoqing JIAO Xianting WU Jie
Xinhua hospital affiliated to Shanghai Jiaotong university school of medicine
国内会议
首届中国遗传与疾病论坛——常见与罕见神经遗传病规范化诊治学术交流会
广州
英文
282-282
2013-06-21（万方平台首次上网日期，不代表论文的发表时间）