Analysis of the DMPK gene CTG repeat in healthy Brazilians

dc.creatorFreitas, Silvia Regina Sampaio
dc.creatorCabello, Pedro H.
dc.creatorMoura Neto, Rodrigo Soares
dc.creatorDuro, Luiz Alves
dc.date2019-11-26T12:31:43Z
dc.date2019-11-26T12:31:43Z
dc.date2007
dc.date.accessioned2023-09-26T20:44:47Z
dc.date.available2023-09-26T20:44:47Z
dc.identifierFREITAS, 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.
dc.identifier1415-4757
dc.identifierhttps://www.arca.fiocruz.br/handle/icict/37375
dc.identifier10.1590/S1415-47572007000100004
dc.identifier1678-4685
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8863121
dc.descriptionMyotonic 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.
dc.formatapplication/pdf
dc.languageeng
dc.publisherSociedade Brasileira de Genética
dc.rightsopen access
dc.subjectDistrofia miotônica
dc.subjectGene De DMPK
dc.subjectMutação dinâmica
dc.subjectRepetição do trinucleotídeo
dc.subjectRepetição do CTG
dc.subjectMyotonic dystrophy
dc.subjectDynamic mutation
dc.subjectTrinucleotide repeat
dc.subjectCTG repeat
dc.subjectDMPK gene
dc.titleAnalysis of the DMPK gene CTG repeat in healthy Brazilians
dc.typeArticle


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