The Clinical And Molecular Genetics Study About A DM Family

Abstractncidence of 1 per 7000 - 8000 in western - Europe and north - American. It is an autosomal dominant. It is characterized by inherited muscle hyperexcit-ability ( myotonia) , progressive myopathy, cataract, defects of cardiac conduction , diabetes, testicular failure, neuropsychiatry impairment, and other developmental and degenerative manifestations. Muscle biopsies has many alterations with muscle cell degeneration and fiber hyperplasia. Now,DM has devided into DM1 and DM2 by clinically and genetically. DM1 is caused by a ( CTG) n repeat expansion in the 3' untranslated region of dystrophia myotonica - protein kinase (DMPK) gene in 19ql3. 3. DM2 (Type â…¡ DM) is caused by a ( CCTG) n repeat expansion intron 1 of the zinc finger protein 9 (ZNF9) gene in 3q21. 3. The clinical and molecular parallels between DM1 and DM2 indicate that the multi-systemic features common to both diseases are causd by CUG and CCUG expansions expressed at the RNA level.DM1 and DM2 will be evaluated only by molecular genetical analyses. It has had some reports about the DM1 in our century,but it hasnt had any reports about the study on clinically and molecular genetica of DM2. We have collected a very special DM family, it is similar on clinical to DM1 and DM2, But they are different. We investigated many patients of family about its clinical feature and its biochemical examinations. At the same time, we detected the genotype of the family by a kind of new method of gene diagnosis firstly.Materials and MethodsWe examed 3 affected of the family. We obtained blood samples from 9 af-...