肝豆状核变性ATP7B基因Arg778Leu突变型与临床表现的相关性研究

目的:探讨肝豆状核变性(Hepatolenticular Degeneration,HLD)患者ATP7B基因Arg778Leu突变型与临床表现之间的相关性。方法:采用PCR和DNA测序技术检测91例HLD患者ATPTB基因8号外显子Arg778Leu突变,将91例患者分为纯合突变组、杂合突变组和无突变组,并与临床表现(性别、起病年龄、临床表型)进行相关分析。结果:在91例HLD患者中检出26例Arg778Leu纯合子和40例杂合子,其余25例无此突变。患者性别、起病年龄、临床表型与该突变型均无相关性。结论:Arg778Leu突变与患者性别、起病年龄及临床表型无关。

Arg778Leu mutation of ATP7B gene and clinical manifestation in hepatolenticular degeneration:an association study

Objective:To investigate the relationship between Arg778Leu mutation of ATP7B gene and clinical manifestation in hepatolenticular degeneration(HLD). Methods: Arg778Leu mutation in exon 8 was measured by PCR and DNA sequencing in 91 patients with HLD, which followed were divided into three groups: homozygous Arg778Leu mutation in one group,heterozygous mutation in one group and others in one group. At last,Try to explore the relationship between gene mutation and clinical manifestation including gender, the onset age and clinical phenotype. Results: Among 91 HLD patients, Arg778Leu homozygous mutation have been found in 26 cases,compound heterozygote in 40 cases,and other 25 patients without this mutation. There was no relationship between clinical manifestation(gender, the onset age ,clinical phenotype) and Arg778Leu mutation. Conclntlons: Arg778Leu mutation was not related to gender, the onset age and clinical phenotype.