Article
Analysis of the DMPK gene CTG repeat in healthy Brazilians
Registro en:
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.
1415-4757
10.1590/S1415-47572007000100004
1678-4685
Autor
Freitas, Silvia Regina Sampaio
Cabello, Pedro H.
Moura Neto, Rodrigo Soares
Duro, Luiz Alves
Resumen
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.