Relationship of myocardial damage of chronic and latent Keshan disease with desmin gene exon6 A360P missense mutation / 中国地方病学杂志

ABSTRACT

Objective To survey the relationship between myocardial damage of chronic and latent Keshan disease with A360P missense mutation in desmin gene exon6. Methods By clinical epidemiology method,30 cases had been collected randomly among chronic Keshan disease patients and 30 cases equally among healthy adults (inner control groups) in Diantou town,Huangling county,Shaanxi province,a Keshan disease area,and 30 cases among health adults(outer control group) in Chang'an district,Xian city,a normal area. Genome DNA had been extracted from 90 blood samples. Different restriction sites had been analyzed by the methods of PCR,digested by restriction endonuclease and electrophoresis. By virtue of Bsp1286 Ⅰ enzyme,122 bp and 60 bp strap could be found in control group from exnn4,showing that Bsp1286 Ⅰ enzyme was active. By virtue of Bsp1286 Ⅰ enzyme,desmin gene exon6 was digested to 184 bp and 66 bp strip when A360P missense mutation site exited in exon6. Results One hundred and twenty two bp and 60 bp strap could be found in control group from exon4 digested by Bsp1286 Ⅰ ,which showed Bsp1286 Ⅰ enzyme was active. Two hundred and fifty bp strips can only be found in digest products of exon6. One hundred and eighty-four and 66 bp strips which were the products of DNA digested by Bsp1286 Ⅰ could not be found. A360P missense mutation site of desmin gene exon6 had not been found among chronic and latent Keshan disease patients and tow control groups in Keshan disease area and in normal area. Conclusions A360P missense mutation site of desmin gene exon6 has not been found among chronic and latent Keshan disease patients. A360P missense mutation of desmin gene exon6 probably is not predisposing genes of chronic Keshan disease.