Objective: To understand the mutational characteristics of ATP7B gene of hepatolenticular degeneration in Xinjiang region. Methods: 24 cases were diagnosed as hepatolenticular degeneration and the exon of ATP7B gene was detected in some of their siblings and parents. Results: A total of 45 ATP7B gene mutations (93.75%) were detected in 24 cases, of which 14 cases were homozygous mutations or compound heterozygous mutations, six cases were heterozygous mutations and four cases were no mutations. A total of 24 gene mutations and 14 SNPS were detected, including 8 new mutations: c.251C > A, c.121A > c, c.2945C > A, c.2194C > T, c.2947T > c, c.3626T > A, c.3662_3664del, c.3557G > T. The most common mutations were c.2621C > T (p.A874V) [16.7% (4/24)] and c.2333G > T (p.R778L) [12.5% (3/24)]. A total of 4 cases were diagnosed as pre-symptomatic. Conclusion: In this study, the most common mutation in the ATP7B gene is A874V. The most common genetic mutations in Han and Uyghur patients were different. The most common mutation in Han and Uyghur patients is R778L and A874V. Exon 11 is the gene mutations hot spot for patients with hepatolenticular degeneration in Xinjiang region, and is one of the priority exons to be detected when screening patients with suspected hepatolenticular degeneration.
目的： 了解新疆地区肝豆状核变性ATP7B基因突变特点。 方法： 对24例诊断为肝豆状核变性患者及部分患者同胞和父母进行ATP7B基因外显子检测。 结果： 24例患者中，共检测出45个ATP7B基因突变（93.75％），14例检测到纯和突变或复合杂合突变，6例仅检测到杂合突变，4例未检测到突变；共检测到24种基因突变，14种单核苷酸多态性，其中包括8种新突变：c.251C > A，c.121A > C，c.2945C > A，c.2194C > T，c.2947T > C，c.3626T > A，c.3662_3664del，c.3557G > T。最常见的突变为c.2621C > T（p.A874V）[16.7%（4/24）]和c.2333G > T（p.R778L）[12.5%（3/24）]。共诊断出4例症状前患者。 结论： 新疆地区ATP7B基因最常见的突变为A874V，汉族与维吾尔族患者常见基因突变不同，汉族患者最常见的突变为R778L，维吾尔族最常见的突变为A874V。11号外显子是新疆地区肝豆状核变性患者的一个基因突变热区，是筛选肝豆状核变性疑似患者时优先检测的外显子之一。.
Keywords: ATP7B gene; DNA mutational analysis; Hepatolenticular degeneration.