Freqüência Alélica e Ausência de Distúrbio de Segregação no Locus da Distrofia Miotônica em Indivíduos Normais
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Published:
Jan 7, 2007
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Abstract
A Distrofia Miotônica de Steinert (DM) é uma doença autossômica dominante neuromuscular progressiva, causada por uma expansão da repetição CTG no locus DMPK do cromossomo humano 19q13.3. O número de repetições nos alelos normais varia de 5 a 37, enquanto que nos pacientes com DM, este número é sempre superior a 50. O tamanho da expansão está correlacionado à gravidade clínica e à idade de apresentação dos sintomas da doença. Pacientes com 50 a 150 cópias da repetição apresentam a forma mínima da doença, podendo ter apenas catarata como único sintoma. Os pacientes com 100 a 1000 repetições apresentam a forma clássica e pacientes que apresentam mais de 2000 cópias possuem a forma congênita. Baseados em 182 trios (mãefilho-suposto pai) com probabilidade de paternidade superior a 99,99%, foram estimadas freqüências gênicas e genotípicas, parâmetros de interesse forense e verificada a possibilidade de ocorrencia de desvio meiótico. Fenótipos estão em Equilíbrio de Hardy-Weinberg (P = 0,2653); o perfil de freqüências alélicas mostrou-se semelhante ao de populações européias e africanas, mas diferentes da população Asiática. Nossos achados não confirmam a existência de desvio meiótico.
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How to Cite
Miziara, R. C., Wiezel, C. E. V., Passos Júnior, G. A. da S., & Simões, A. L. (2007). Freqüência Alélica e Ausência de Distúrbio de Segregação no Locus da Distrofia Miotônica em Indivíduos Normais. Revista Brasileira Multidisciplinar, 11(1), 213-221. https://doi.org/10.25061/2527-2675/ReBraM/2007.v11i1.242
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Authors retain the copyright and grant the journal the right of first publication, with the work simultaneously licensed under the Creative Commons Attribution License, which allows the sharing of work with acknowledgment of authorship and initial publication in this journal.
Authors are authorized to take additional contracts separately, for non-exclusive distribution of the version of the work published in this journal (eg publish in institutional repository or as book chapter), with acknowledgment of authorship and initial publication in this journal.
Authors are allowed and encouraged to publish and distribute their work online (eg in institutional repositories or on their personal page) at any point before or during the editorial process, as this can generate productive changes as well as increase the impact and citation of the published work (See The Effect of Free Access) at http://opcit.eprints.org/oacitation-biblio.html
