肝豆状核变性基因Arg778Leu突变与临床表现关系研究  

Study on correlation between gene Arg778Leu mutation and clinical manifestation in Wilson’s disease

作　　者：黄帆[1] 梁秀龄[1] 王莹[1] 徐评议[1] 杨春水[1] 阎振文 

机构地区：[1]中山医科大学附属第一医院神经内科,广州510080

出　　处：《中华神经科杂志》2000年第5期290-291,共2页Chinese Journal of Neurology

基　　金：卫生部临床学科重大项目基金!资助项目 (370 91);中山医科大学 2 11工程基金!资助项目 (46 )

摘　　要：目的　探讨肝豆状核变性 (Wilsondisease ,WD)基因的突变热点Arg778Leu与临床表现的关系。方法　采用荧光PCR检测 6 6例WD患者和 30例对照患者的WD基因 8号外显子Arg778Leu突变 ,把 6 6例WD病人分为突变组和无突变组与临床资料 (包括性别、发病年龄、首发症状、血清铜、铜蓝蛋白、2 4h尿铜等 )进行相关分析。结果　在 6 6例WD患者中检出 5例突变纯合子和 2 1例突变杂合子 ,其余 40例无该突变 ;30例对照患者均无该点突变。突变组的平均发病年龄为 18 5 8岁 ,无突变组平均发病年龄为 14 6 1岁 ,差异有显著意义 (P =0 0 3)。患者性别 ,以神经系统或消化系统表现为首发症状 ,血清铜、铜蓝蛋白及 2 4h尿铜水平与该突变均无显著相关性 (P >0 0 5 )。结论　Arg778Leu突变与发病年龄有关 ,该突变使WD患者的发病年龄推迟 ;性别、首发症状及铜生化水平则与该突变无关。Objective To investigate the correlation between the gene Arg778Leu mutation high frequency spot and clinical manifestation in Wilson′s disease(WD) Methods Arg778Leu gene mutation point in exon 8 was measured by fluorescence PCR in 66 patients with WD and 30 non WD individuals 66 patients with WD were divided into two groups, those with gene Arg778Leu mutation in one group and others in another group Try to analyse and explore the correlation between gene mutation and clinical manifestation in WD patients including sex, age, first symptoms, serum copper, serum ceruloplasmin, and copper excretion in 24 hours urine, etc Results Among 66 WD patients, Arg778Leu gene mutation as the homozygous (also called homozygote) have been found in 5 cases and compound heterozygous (heterozygote) found in 21 cases, and 40 patients were found without gene mutation The onset age in gene mutation group (18 58 years old, n =26) was significantly older than in the non gene mutation group (14 61 years old, n =40) ( P =0 03) There was no relationship between patients′ sex, first symptoms caused by liver and brain, serum copper levels, serum ceruloplasmin levels, copper concentration in 24 hours urine and Arg778Leu gene mutation, respectively (all P >0 05) Conclusions Arg778Leu mutation was related to the onset age in patients with WD, but not to patients′ sex, first symptoms and copper metabolic disturbance Arg778Leu mutation is suggested to postpone the onset age of WD patients

关 键 词：肝豆状核变性 基因突变 临床表现 

分 类 号：R742.4[医药卫生—神经病学与精神病学]