肝豆状核变性新突变p.I930del的基因诊断和产前诊断  

Genetic Diagnosis and Prenatal Diagnosis of the New Mutation p.I930del of WD

作　　者：张前军[1,2] 李汶[1,2] 高伯迪 汤蔚琳 李麓芸[1,2] 卢光琇[1,2] 

机构地区：[1]中南大学生殖与干细胞工程研究所,中国长沙410078 [2]中信湘雅生殖与遗传专科医院,中国长沙410078

出　　处：《湖南师范大学自然科学学报》2012年第2期63-66,共4页Journal of Natural Science of Hunan Normal University

基　　金：教育部新教师基金资助项目(20090162120032)

摘　　要：目的:通过研究一个肝豆状核变性特殊家系的基因突变情况,探讨新突变p.I930del诱发肝豆状核变性的分子机制.方法:采用变性高效液相色谱(DHPLC Denaturing high performance liquid chromatography)方法结合DNA测序方法对1个WD家系进行ATP7B基因所有外显子及5'UTR区突变检测.结果:该家系WD由p.I930del,p.T977M,p.G943S 3个基因突变引起,p.I930del源自父方,100个正常人测序结果没有发现该位点的缺失;p.T977M,p.G943S分别来自不同的母方.产前诊断结果表明胎儿没有携带致病基因.结论:位于跨膜区的p.I930del为一个新的肝豆状核变性致病突变;该缺失可能通过影响跨膜区结构的形式影响该蛋白的功能.Objective ： To investigate gene mutations of a special family of WD and discuss the molecular mechanism of the WD mutation p. I930del. Methods：denaturing high performance liquid chromatography （DHPLC Denaturing high performance liquid chromatography ） method combined with DNA sequencing method, all exons of ATPTB gene and 5＇UTR region of one case of WD patient and five relatives were detected for mutation. Results： Mutations of p. I930del, p. T977M and p. G943S are identified in this WD pedigree. Mutation I930del is a new mutation from the parent, p. T977M and p. G943S are from the different maternal. Conclusion： p. I930del is a new mutation of WD. The deletion of amino acid I in the transmembrane region results in the protein function abnormal.

关 键 词：肝豆状核变性 变性高效液相色谱 血清铜蓝蛋白 多态 遗传 

分 类 号：R394.3[医药卫生—医学遗传学]