克山病与Desmin基因突变的关系探讨

Survey on relationship of Keshan disease with Desmin gene missense mutation

目的探讨Desmin基因exon6的A360P错义突变与克山病心肌损伤发生发展的关系。方法采用临床流行病学方法调查,随机抽取年龄、性别相匹配的慢型和潜在型克山病患者,病区正常组和非病区正常组各30例的血样,提取基因组DNA,采用PCR扩增、酶切,电泳等技术比较各组Desmin基因片断酶切位点的变化。结果慢型和潜在型克山病患者与病区正常组未检出Desmin基因exon6的A360P错义突变错义突变位点。结论Desmin基因exon6的A360P错义突变可能不是克山病心肌损伤的易感基因突变。

Objective To survey the relation of chronic Keshan disease with A360P missense mutation in exon 6 of Desmin gene. Methods By clinical epidemiology method, 90 cases had been collected randomly and equally among Keshan disease patients and normal people in Keshan disease area and normal people in normal area. Genome DNA had been extracted from 90 blood samples. By methods of PCR, enzyme inciding and electrophoresis, different enzyme inciding site had been compared. Results A360P missense mutation site had not found in Desmin gene of chronic keshan disease patients and normal people in Keshan disease area. Conclusions A360P missense mutation in Desmin gene probably is not predisposing genes of chronic Kesban disease.