中国人WD基因12号外显子突变研究  

The Study of Mutation in Exon 12 of Wilsons Disease(WD) Gene in Chinese Peole

作　　者：严永兴[1] 程楠[2] 洪铭范[2] 胡纪源[2] 韩咏竹[2] 杨任民[2] 

机构地区：[1]杭州市第三人民医院,310009 [2]安徽中医学院神经病学研究所附属医院

出　　处：《脑与神经疾病杂志》2004年第4期248-250,共3页Journal of Brain and Nervous Diseases

摘　　要：目的:研究中国人Wilson病(WD)基因第12外显子突变特征。方法:应用聚合酶链反应-单链构象多态型(PCR-SSCP)银染技术研究70例无亲缘关系的WD患者和30例正常组的WD基因12外显子,对有异常泳动者经DNA自动测序技术证实其突变性质和位置。结果:正常组未见异常。患者组发现11例异常(11/70占15.7％),二种错义突变,其中9例为Thr935Met突变(9/70,占12.9％),2例为Lys952Arg突变(2/70占2.8％)。结论:第12外显子是中国人WD基因突变热区之一,发现一种未见报道的新型错义突变。Objective: To Study the frequency of mutation in exon 12 of Wilson's disease(WD) gene in Chinese people. Methods: Screening for exon12 mutation was conducted in 70 unrelated WD patients and 30 normal controls. Mobility shift of exon12 was analyzed by SSCP and further confirmed by direct sequencing. Results: No abnormality was found in 30 controls. In 70 patients, two missense mutation were identified in 11 cases(15. 7%), Including 9 cases of Thr 935 Met mutation(12. 9%) and 2 of Lys 952 Arg mutation (2. 8%). Conclusions: Exon 12 was one of hot point mutation of WD in Chinese people, A novel missense mutation was identified

关 键 词：WILSON病 WD基因 PCR-SSCP 基因突变 

分 类 号：R742.4[医药卫生—神经病学与精神病学]