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Lys95 2Arg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 Thr935Met mutation(12.9%) and 2 of Lys952Arg mutation(2.8%). Conclusion: Exon12 was one of hot point mutation of WD in Chinese people, A novel missense mutation was identified.
出处
《中国优生与遗传杂志》
2005年第1期39-41,共3页
Chinese Journal of Birth Health & Heredity
