Carrier detection of Duchenne/Becker muscular dystrophy in Chinese families by microsatellite analysis / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To screen and detect the female carriers from the DMD/BMD family members for prenatal or preimplantation genetic diagnosis.</p><p><b>METHODS</b>For the detection of DMD/BMD carriers from 27 family members in 4 families, PCR to five microsatellite markers(located in 5' terminus and intron 44, 45, 49, 50) and analysis of the short tandem repeat(STR) sequence polymorphism with the use of genescan were implemented.</p><p><b>RESULTS</b>Six of the 17 female members were obligate DMD gene carriers according to the haplotype analysis of the results of the genescan, which conformed with the pedigree analysis. Besides, the authors detected five carriers and five normal females in these families with the use of the haplotype analysis only. The most polymorphic locus was STR 49, and the least was STR 50.</p><p><b>CONCLUSION</b>The STR haploid linkage analysis using (CA)n repeats within the human dystrophin gene is a rapid,accurate, objective method and is well suited for routine use in clinical laboratories engaged in DMD/BMD linkage analysis for the detection of carrier.</p>