title: [Carrier genetic diagnosis of intron and/or exon-deletion Duchenne muscular dystrophy by microsatellite analysis and quantitative polymerase chain reaction].
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Neurology, First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, 510080 PR China.
authors.forename: Wen
authors.initials: W
authors.lastname: Huang
authors.forename: Cheng
authors.initials: C
authors.lastname: Zhang
authors.forename: You-mei
authors.initials: YM
authors.lastname: Xie
authors.forename: Song-lin
authors.initials: SL
authors.lastname: Chen
authors.forename: Wei-xi
authors.initials: WX
authors.lastname: Zhang
authors.forename: Xiao-li
authors.initials: XL
authors.lastname: Yao
authors.forename: Ying
authors.initials: Y
authors.lastname: Zeng
authors.forename: Xi-lin
authors.initials: XL
authors.lastname: Lu
mesh_terms: D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods*