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.
Highlights
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)
Myotonic Dystrophy (DM) is a multi-systemic neuromuscular disorder caused by a dynamic mutation of cytosine-thymine-guanine (CTG) trinucleotide repeats in the 3’ untranslated region of the myotonic dystrophy protein kinase gene (DMPK) (Brook et al, 1992)
An analysis of the DMPK gene alleles in the population of the Brazilian city of Rio de Janeiro (RJ) would be interesting because the degree of ethnic heterogeneity may be reflected in the allelic profile of CTG repeats
Summary
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). European populations exhibit an elevated frequency of large-sized normal alleles [(CTG)19-37] (8%) (Zerylnick et al, 1995) and a DM incidence of 2.2 x 10-5 to 5.5 x 10-5 (Harper, 1989), while in Africans the frequency of (CTG)19-37 is 1% (Harley et al, 1992) and the occurrence of the disease is apparently zero (Ashizawa and Epstein, 1991).
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