肝豆状核变性一核心家系ATP7B基因突变分析  

HEPATOLENTICULAR DEGENERATION:ATP7B GENE MUTATION ANALYSIS IN WILSON'S DISEASE

作　　者：黄祖洲 卢明 纪静[4] 徐瑛蕾[1] 吴春梅[2] 刘世国[1] HUANG Zuzhou LU Ming JI Jing XU Yinglei WU Chunmei LIU Shiguo(Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University, Qingdao 266003, Chin)

机构地区：[1]青岛大学附属医院产前诊断中心,山东青岛266003 [2]青岛大学医学院临床检验诊断学教研室 [3]青岛市崂山区沙子口卫生院 [4]青岛大学医学院公共卫生学院

出　　处：《青岛大学医学院学报》2017年第1期103-105,109,共4页Acta Academiae Medicinae Qingdao Universitatis

摘　　要：目的检测肝豆状核变性(WD)病人ATP7B基因突变情况,探讨在WD发病中该基因复合突变的意义。方法采用第二代DNA测序技术检测1例WD病儿及其生物学父母的ATP7B基因突变,通过PCR技术和Sanger测序技术进行突变位点的验证,以同样方法检测100例健康查体者的相同位点作对照。结果经第二代DNA测序技术检测,WD病儿ATP7B基因发现复合突变c.2333G>T/c.3955C>T,而其生物学父母分别检测到c.3955C>T和c.2333G>T;100例健康查体者均未检测到此突变。上述突变均经Sanger测序技术证实。结论该WD病儿检测到ATP7B基因致病杂合突变,两个杂合突变均可能引起蛋白质结构和功能改变,其共同作用导致WD发病。Objective To detect mutation of ATP7B in a patient with Wilson disease （WD）, and discuss the significance of ATP7B with the onset of WD. Methods Adopting next-generation DNA sequencing technology, ATP7B mutations in one child with WD and his biological parents were detected. Mutation sites were validated using PCR technology and Sanger technology. The same loci of 100 healthy subjects were detected using the same methods to serve as controls. Results Using the next-generation DNA sequencing technology, complex mutation of c.2333G〉T/c.3955C〉T in ATP7B of the child was found, and in his biological parents, c.3955C 〉 T and c.2333G 〉 T were detected, respectively, which were confirmed by Sanger sequencing technology. No this kind of mutation was detected in the 100 healthy individuals. Conclusion Pathogenic heterozygous mutations in ATP7B were found in the child with Wilson% disease. The two heterozygous mutations may cause changes of protein function and structure, leading to the onset of the disease.

关 键 词：肝豆状核变性 基因 ATP7B DNA突变分析 

分 类 号：R742.4[医药卫生—神经病学与精神病学] R394[医药卫生—临床医学]