Resumo

FONSECA MENDOZA, Dora Janeth; MATEUS ARBELAEZ, Heidi  e  SILVA ALDANA, Claudia Tamar. Loss of heterozygosity and carrier identification in Duchenne muscular dystrophy: a familiar case with recombination event. Rev. Cienc. Salud [online]. 2012, vol.10, n.1, pp.83-90. ISSN 1692-7273.

Duchenne/Becker Muscular Dystrophy (DMD/BMD) is an X-linked recessive disease characterized by muscular weakness. It is caused by mutations on the dystrophin gen. Loss of heterozygosity allows us to identify female carriers of deletions on the dystrophin gen. Objective: identify female carriers in a family with a patient affected by DMD. Material and methods: nine family members and the affected child were analyzed using DNA extraction and posterior amplification of ten STRs on the dystrophin gen. Haplotypes were constructed and the carrier status determined in two of the six women analyzed due to loss of heterozygosity in three STRs. Additionally, we observed a recombination event. Conclusions: loss of heterozygosity allows us to establish with a certainty of 100% the carrier status of females with deletions on the dystrophin gen. By the construction of haplotypes we were able to identify the X chromosome with the deletion in two of the six women analyzed. We also determined a recombination event in one of the sisters of the affected child. These are described with a high frequency (12%). A possible origin for the mutation is a gonadal mosaicism in the maternal grandfather or in the mother of the affected child in a very early stage in embryogensis. This can be concluded using the analysis of haplotypes.

Palavras-chave : recombination; loss of heterozygosity; dystrophin; mosaicism.

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