摘要
目的对中国人ＷＤ基因８号外显子进行突变分析。方法对中国人Ｗｉｌｓｏｎ＇ｓ病（Ｗｉｌｓｏｎ＇ｓｄｉｓｅａｓｅ，ＷＤ）４５例患者以及２０例正常人的ＡＴＰ７Ｂ基因８号外显子进行ＳＳＣＰ分析，对有异常者进行测序，根据突变点序列设计合适的内切酶对所有患者进行酶切分析。结果正常组未见异常。患者组发现ｅｘ－ｏｎ８有泳动异常，序列分析证实Ｇ２２７３Ｔ置换，即Ａｒｇ７７８Ｌｅｕ突变。用限制性内切酶ＭｓｐⅠ对４５例患者以及２０例正常对照进行该位点酶切分析，表明正常组未见异常，患者组有２例突变纯合子，占患者总数４．４％，１１例杂合子，占１２．２％。外显子８的Ａｒｇ７７８Ｌｅｕ突变率占ＷＤ突变基因的１６．６７％。检测了２个突变家系。结论８号外显子突变可能是中国人ＷＤ发病的较重要原因。
Objective To analyze the frequency of mutation in exon 8 of Wilson's disease(WD) gene in Chinese people.Methods Screening for ATP7B gene mutation was conducted in 45 WD patients. Mobility shift of exon 8 was analyzed by SSCP. Nucleotide sequence of exon 8 was analyzed, and the PCR products were cut by enzyme Msp Ⅰ. The authors found G2273T mutation at codon 778, and according to this mutation sequence, made an analysis of enzyme cut by Msp Ⅰ in all patients. 2 WD families were analyzed.Results No abnormality was found in 20 controls. In 45 patients, 2 were homozygous (4.4%) and 11 heterozygous(12.2%). The positive rate of mutation was 16.67%. The Arg778Leu mutation was validated by this study.Conclusion The mutation in exon 8 of WD gene may play an important role in pathogenesis of Wilson's disease in Chinese.
出处
《中华医学遗传学杂志》
EI
CAS
CSCD
北大核心
1999年第2期88-90,共3页
Chinese Journal of Medical Genetics
基金
国家自然科学基金
广东省自然科学基金
关键词
基因突变
核酸序列分析
肝豆状核变性
Wilson's disease Gene mutation Nucleotide sequence analysis
