Intragenic DNA polymorphism analysis of DMD/BMD dystrophy gene for carrier and prenatal diagnosis in 60 Iranian healthy individuals.

Duchenne and Becker muscular dystrophies (DMD/BMD) are allelic, x-linked neuromuscular disease resulting from mutations in dystrophin gene. DMD is the most severe and frequent inherited but still incurable disease in males. About two-third of such patients have large deletions or duplications that can be identified by multiplex polymerase chain reaction (PCR). In one-third of remaining cases, a linkage analysis that involves DNA markers of intragenic dystrophic gene is considered a rapid and simple method for carrier detection and prenatal diagnosis. In the present study, we investigated frequency and heterozygosity of three polymorphic restriction sites and also four highly polymorphic (CA)(n) repeat microsatellites loci within hot spots region of human dystrophin gene in 60 healthy Iranian populations. Our findings indicated that the allele frequencies of pERT87-8/TaqI, pERT87-15/BamHI, and pERT87-15/XmnI were 0.23/0.77, 0.221/0.779, and 0.239/0.761, respectively. Among these three polymorphic sites, pERT78-15/XmnI locus had the highest heterozygosity with frequency of 47.17%. We also found that STR49 had the highest heterozygosity among four polymorphic microsatellites. These findings are useful in linkage analysis of Iranian DMD families in both carrier detection and prenatal diagnosis.