Carrier genetic diagnosis of intron and/or exon-deletion Duchenne muscular dystrophy by microsatellite analysis and quantitative polymerase chain reaction / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To detect the female carriers from the intron and/or exon-deletion Duchenne/Becker musclular dystrophy (DMD) familial members for prenatal or preimplantation genetic diagnosis.</p><p><b>METHODS</b>Using method of PCR to five microsatellite markers (located in 5' terminus and intron 44, 45, 49, 50), analysing of the short tandem repeat sequence polymorphism with the genescan and binding with the quantitative polymerase chain reaction, we detected the DMD carriers from 1 intron and exon -deletion family and 1 intron-deletion family.</p><p><b>RESULTS</b>The STR-50 genotype of II 2 in family 5 was 245/245, so II3 is DMD gene carrier. The STR-45 genotype of II6 and II8 were del/172, III19 was del/178, so they were all DMD gene carriers.</p><p><b>CONCLUSION</b>The STR haploid linkage analysis combined with quantitative polymerase chain reaction is accurate and efficient to detect the female carriers from the intron and/or exon-deletion DMD familial members.</p>