Distribution of CTG repeats at the DMPK gene in myotonic distrophy patients and healthy individuals from the Mexican population |
| |
Authors: | J J Magaña P Cortés-Reynosa R Escobar-Cedillo R Gómez N Leyva-García B Cisneros |
| |
Institution: | 1.Department of Genetics,National Rehabilitation Institute,Mexico,Mexico;2.Department of Muscular Dystrophy and Electrophysiology,National Rehabilitation Institute,Mexico,Mexico;3.Department of Toxicology,Cinvestav-IPN,Mexico,Mexico;4.Department of Genetics and Molecular Biology,Cinvestav-IPN,Mexico,Mexico |
| |
Abstract: | Myotonic dystrophy type 1 (DM1), the most common form of adult muscular dystrophy, is caused by anormal expansion of CTG trinucleotide
repeats located in the 3′-untranslated region of the DMPK gene. The clinical features of DM1 are multisystemic and highly
variable, and the unstable nature of CTG expansion causes wide genotypic and phenotypic presentations. In this study, we described
to our knowledge for the first time the molecular diagnosis of myotonic dystrophy type 1 patients in the Mexican population,
applying a fluorescent PCR method in combination with capillary electrophoresis analysis of the amplified products. We identified
expanded alleles in 45 out of 50 patients (90%) with clinical features of myotonic disease. Furthermore, genotyping of 400
healthy subjects revealed the presence of 25 different alleles, ranging in size from 5 to 34 repeats. The most frequent allele
was 13 CTG repeats (38.87%) and the frequency for alleles over 18 CTG repeats was 6.7%. Molecular test is essential for DM1
diagnosis and distribution of the CTG repeat alleles present in the Mexican population are significantly different from those
of other populations. |
| |
Keywords: | |
本文献已被 SpringerLink 等数据库收录! |
|