AB163. Microsatellite markers for preimplantation genetic diagnosis in Vietnamese DMD and hemophilia: a female carriers

Abstract: Microsatellite polymorphic markers were powerful tool to perform single cell diagnosis for preimplantation genetic diagnosis (PGD) in X-linked recessive disorders. This type of analysis requires haplotypes information of carrier mothers and affected sons. We present 12 Vietnamese families with duchenne muscular dystrophin (DMD) or Hemophilia A affected sons, six with each disorder. We established haplotypes based on linked microsatellite polymorphic markers in these families and performed diagnosis enabling embryo transfer from the PGD cycle. We also perform haplotypes analysis in five more families for each disease to identify more informative markers among other, in order to construct better strategy for future diagnosis. Microsatellite polymorphic markers flanking the F8 and DMD gene were used to identify haplotypes. Polar bodies (PB) were biopsied and analyzed to determine allelic association between the mutation and markers in multiplex PCR reaction. The results showed that 13 out of 28 embryos were found to be not affected by F8 or DMD gene inherited mutations and were available for transfer. Marker DXS9907, DSTR44, DSTR49 for DMD gene and marker FXS1073, DXS9897, DXS1073 for F8 gene were identified as the most frequent markers shown heterozygous alleles in mother carriers. PB analysis by microsatellite markers were proved to be useful technique for PGD of DMD and Hemophilia A families. Better strategy for PB diagnosis was built.

Keywords: Preimplantation genetic diagnosis (PGD); F8 gene; DMD gene; polar bodies; microsatellite markers