| 中国人WD基因12号外显子突变研究 |
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| 引用本文： | 严永兴,程楠,洪铭范,胡纪源,韩咏竹,杨任民. 中国人WD基因12号外显子突变研究[J]. 脑与神经疾病杂志, 2004, 12(4): 248-250 |
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| 作者姓名： | 严永兴 程楠 洪铭范 胡纪源 韩咏竹 杨任民 |
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| 作者单位： | 310009,杭州市第三人民医院;安徽中医学院神经病学研究所附属医院 |
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| 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。
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| 关 键 词： | Wilson病 WD基因 PCR-SSCP 基因突变 |
| 文章编号： | 1006-351X(2004)04-0248-03 |
| 修稿时间： | 2004-01-07 |
The Study of Mutation in Exon 12 of Wilson''''s Disease(WD) Gene in Chinese Peole |
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| YAN Yongxing,CHENG Nan,HONG Mingfan,et al.. The Study of Mutation in Exon 12 of Wilson''''s Disease(WD) Gene in Chinese Peole[J]. Journal of Brain and Nervous Diseases, 2004, 12(4): 248-250 |
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| Authors: | YAN Yongxing CHENG Nan HONG Mingfan et al. |
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| Affiliation: | YAN Yongxing,CHENG Nan,HONG Mingfan,et al.Affiliated Hospital,Institute of Neurology,Anhui College of Chinese Traditional Medicine,Hefei 230061,China |
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| Abstract: | 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 |
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| Keywords: | Wilson disease WD gene PCR-SSCP gene mutation |
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