摘要
目的应用酶切方法对中国人肝豆状核变性患者ＡＴＰ７Ｂ基因中的高频突变点进行检测，并对家系进行基因诊断分析。方法根据高频突变点所处序列设计合适的内切酶ＭｓｐⅠ，对中国人肝豆状核变性３９个家系４５个患者以及６０例正常人的ＡＴＰ７Ｂ基因８号外显子ＰＣＲ扩增后进行酶切分析。对有异常者进行序列分析（自动测序）。结果正常人组未见异常，患者组有２例突变纯合子，占患者总数４４％，１１例杂合子，占患者总数２４４％。酶切的异常率为２８８％。序列分析证实所有异常表现者均为Ｇ２２７３Ｔ置换，即Ａｒｇ７７８Ｌｅｕ突变。并检测和分析了３个高频突变家系。结论ＡＴＰ７Ｂ基因的８号外显子７７８密码子为中国人肝豆状核变性患者的高频突变点。
Objective To find high frequency mutation point in Chinese patients with Wilson disease and make the genetic diagnosis. Methods The PCR products of exon 8 were digested by MspI, to detect the 778 codon of ATP7B gene in 45 Wilson disease patients in 39 Chinese families and 60 controls.The nucleotide sequence by autoradiograph were analyzed in 3 heterozygote's families . Results No abnormal was found in 60 controls. In 45 patients, we found 2 homozygous (4.4%) and 11 heterozygote (24.4%). The positive rate of mutation was 28.8%. All of the mutations were Arg778 Leu in our research. Conclusions The high frequency of mutation in Chinese patients with Wilson disease is 778 codon of exon 8. The PCR-MspI digested can be a new fast precise diagnosis method in Chinese people with Wilson disease.
出处
《中国神经精神疾病杂志》
CAS
CSCD
北大核心
1998年第6期333-335,共3页
Chinese Journal of Nervous and Mental Diseases
基金
国家自然科学基金
广东省自然科学基金
高等学校博士点学科专项基金
关键词
肝豆状核变性
基因突变
酶切
Wilson disease Gene mutation Enzyme digested
