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首页> 外文期刊>Journal of genetics >Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B
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Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B

机译：威尔逊病55例北北部北部患者的遗传分析：ATP7B中的七种新突变

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摘要

Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. The gene responsible for WD was discovered in 1993 and is located on chromosome 13 at 13q14.3. It encodes a copper-specific transporting P-type ATPase. Early diagnosis can improve treatment outcome and decrease the rate of disability or even mortality. We used Sanger sequencing to identify mutation hot spots in 55 northern Vietnamese with a clinical diagnosis of WD. Mutations were screened and detected by direct DNA sequencing. A total of 26 different ATP7B gene mutations were identified, including seven novel mutations (five nonsense and two missense mutations). The most frequent mutations were p.Ser105Ter (24.55%), p.Arg778Leu (5.45%) and p.Thr850Ile (4.55%). Mutation detection rate in exon 2 was 34.55% and ranked first, followed by exon 8 with 16.36%, and exon 18 with 10.91% each, thus, exons 2, 8 and 18 are the mutation hot spots for northern Vietnamese WD patients. These findings were different from previous studies in Asia. Our research established a suitable strategy for ATP7B gene testing in northern Vietnamese WD patients.
机译：肝豆状核变性（WD）是一种铜代谢的常染色体隐性疾病。与WD有关的基因于1993年被发现，位于13号染色体13q14处。3.编码一种铜特异性运输P型ATP酶。早期诊断可以改善治疗结果，降低致残率甚至死亡率。我们使用Sanger测序来确定55例临床诊断为WD的越南北部患者的突变热点。通过直接DNA测序筛选和检测突变。共鉴定出26种不同的ATP7B基因突变，包括7种新突变（5种无义突变和2种错义突变）。最常见的突变为p.Ser105Ter（24.55%）、p.Arg778Leu（5.45%）和p.Thr850Ile（4.55%）。第2外显子突变检出率为34.55%，居首位，第8外显子突变检出率为16.36%，第18外显子突变检出率各为10.91%，因此，第2外显子、第8外显子和第18外显子是越南北部WD患者的突变热点。这些发现与之前在亚洲进行的研究不同。我们的研究为越南北部WD患者的ATP7B基因检测建立了合适的策略。

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