| Author | Freitas, Silvia Regina Sampaio | |
| Author | Cabello, Pedro H. | |
| Author | Moura Neto, Rodrigo Soares | |
| Author | Duro, Luiz Alves | |
| Access date | 2019-11-26T12:31:43Z | |
| Available date | 2019-11-26T12:31:43Z | |
| Document date | 2007 | |
| Citation | FREITAS, Silvia Regina Sampaio et al. Analysis of the DMPK gene CTG repeat in healthy Brazilians. Genetics and Molecular Biology, Ribeirão Preto, v. 30, n. 1, p. 14-16, 2007. | pt_BR |
| ISSN | 1415-4757 | pt_BR |
| URI | https://www.arca.fiocruz.br/handle/icict/37375 | |
| Language | eng | pt_BR |
| Publisher | Sociedade Brasileira de Genética | pt_BR |
| Rights | open access | |
| Subject in Portuguese | Distrofia miotônica | pt_BR |
| Subject in Portuguese | Gene De DMPK | pt_BR |
| Subject in Portuguese | Mutação dinâmica | pt_BR |
| Subject in Portuguese | Repetição do trinucleotídeo | pt_BR |
| Subject in Portuguese | Repetição do CTG | pt_BR |
| Title | Analysis of the DMPK gene CTG repeat in healthy Brazilians | pt_BR |
| Type | Article | |
| DOI | 10.1590/S1415-47572007000100004 | |
| Abstract | Myotonic dystrophy (DM) is a neuromuscular disorder caused by the expansion of the cytosine-thymine-guanine
(CTG) repeat of the myotonic dystrophy protein kinase gene (DMPK). This repeat is highly polymorphic in healthy individuals
[(CTG)5-37], and it has been proposed that expanded CTG alleles originated from larger sized normal alleles
[(CTG)19-37]. According to this hypothesis, a positive correlation should be expected between the frequency of these
large-sized normal alleles and the prevalence of the disorder in a population. We determined the distribution of CTG
alleles of the DMPK gene in 156 healthy Brazilians from Rio de Janeiro city. Our analyses of 312 chromosomes detected
20 different alleles ranging in size from 5 to 27 CTG repeats, with 24 alleles having more than 18 repeats
(7.69%). This frequency of (CTG)319 alleles observed in our population suggests that the prevalence of DM in Rio de
Janeiro should not be different from the prevalence in European populations. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Universidade Federal do Rio de Janeiro. Departamento de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Affilliation | Universidade Federal do Rio de Janeiro. Instituto de Neurologia Deolindo Couto. Rio de Janeiro, RJ, Brasil. | pt_BR |
| Subject | Myotonic dystrophy | pt_BR |
| Subject | Dynamic mutation | pt_BR |
| Subject | Trinucleotide repeat | pt_BR |
| Subject | CTG repeat | pt_BR |
| Subject | DMPK gene | pt_BR |
| e-ISSN | 1678-4685 | |
