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Wilson病ATP7B基因Arg778Leu突变与临床表型之相关性探讨 |
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刘晓青 张建明 顾学范 吴洁 张雅芬
薛和平 许燮萍 鲍克容 陈瑞冠
【摘要】 目的 了解Wilson病ATP7B基因的突变与临床表现型的相关性。方法 采用PCR、Msp I酶消化和DNA测序等技术对来自51个家庭的54例Wilson病患者进行ATP7B基因外显子8 Arg778Leu的检测。结果 54例Wilson病患者中36例存在Arg778Leu(CGG→CTG)基因突变，15例为纯合型，21例为杂合型，Arg778Leu等位基因突变频率为47.2 ％；46例伴肝损害的患者中33例存在ATP7B基因外显子8的Arg778Leu突变；36例Arg778Leu突变者中34例同时伴有Leu770Leu多态性。结论 Arg 778 Leu突变类型是中国人Wilson病的高频率突变点(47.2%)；Arg 778 Leu突变基因型多数与肝损害临床型相关。
【关键词】 肝豆状核变性病 基因 突变 表现型 基因型
A study on the relationship between Arg778leu mutation of ATP7B gene and clinical phenotype in Wilson disease patients LIU Xiaoqing*, ZHANG Jianming, GU Xuefan, et al.* Xinhua Hospital, Shanghai Second Medical University, Shanghai 200092
【Abstract】 Objective To study the relationship between Arg778leu mutation of ATP7B gene and clinical phenotype of Wilson disease (WD).Methods Using PCR, Msp I digestion and DNA sequencing, the authors identified the Arg778leu mutations in exon 8 of ATP7B gene in 54 patients from 51 families.Results Among 54 WD patients, 36 were found to carry Arg778leu (CGG-CTG ) mutation, among whom 15 were homozygote, 21 were heterozygote, the frequency of this mutation was 47.2%. Of 46 patients with hepatic damage, 36 were found to have the mutation of Arg778Leu, among whom 34 were found to have Leu770Leu polymorphism simultaneously.Conclusion This study showed that there was a high frequency (47.2%) of Arg778leu mutation in WD patients. The genotype of Arg778leu mutation correlated in most WD patients to the phenotype of hepatic damage.
【Key words】 Hepatolenticular degeneration Genes Mutation Genotype Phenotype
Wilson病(WD)又称肝豆状核变性(hepatolen- ticular degeneration, HLD)，系P型ATP7B(P-ATP7B)基因缺陷引起铜代谢障碍的常染色体隐性遗传性疾病。由于铜积聚于多脏器，主要引起肝脏、神经系统、角膜、血液系统和肾脏等机能障碍以及精神心理障碍。WD临床症状多样化，但主要表现为不同程度的进行性肝损害或(和)神经系统锥体外系损害，不治疗或延误治疗将危及生命。该症起病大多缓慢，但亦有急性肝衰竭样起病，年幼起病常有肝损害症状，早期仅有肝酶的异常，年长儿或成人则以神经系统表现为首发症状。诊断往往是在症状出现后经综合判断方可建立。近年来国内外学者相继通过对WD患者的ATP7B 基因分析，在ATP7B基因编码区域确定了130余种突变。为进一步了解W[1] [2] 下一页
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