title: Rapid method for targeted prenatal diagnosis of Duchenne muscular dystrophy in Vietnam.
abstract: OBJECTIVE
  Since there is no effective curative treatment for Duchenne muscular dystrophy (DMD), prevention mostly depends on genetic counseling and prenatal diagnosis. About two-thirds of the affected patients have large deletions or duplications, which can be detected by multiplex ligation-dependent amplification (MLPA). The remaining cases include small mutations, which cannot be easily identified by routine techniques. In such cases, linkage analysis may be a useful tool for prenatal diagnosis. Here we compared results obtained from linkage using short tandem repeats (STRs) with those by MLPA and sequencing analysis.
  
  
  METHODS
  Eight Vietnamese pregnant women at risk of having a baby with DMD and requesting prenatal diagnosis were recruited in this study. MLPA and direct sequencing were applied to screen large rearrangements and point mutations in the dystrophin gene in the DMD probands and the fetal samples. STR linkage was also performed to analyze fetal mutation status.
  
  
  RESULTS
  By MLPA and sequencing analysis, five DMD patients showed deletions of the dystrophin gene, and no deletions of exons were detected in seven amniotic fluid cell samples; one patient harbored the out-of-frame small deletion of exon 43, which was also found in the fetal sample of this family. STR analysis revealed the transmission of a mutant allele inside each family.
  
  
  CONCLUSIONS
  Our results suggest that the combination of STR and MLPA could be a rapid, reliable, and affordable detection protocol for determination of the carrier's status and prenatal diagnosis of DMD in a developing country such as Vietnam.
authors.affiliation: Center for Gene-Protein Research, Hanoi Medical University, Hanoi, Vietnam.
authors.forename: Minh-Hieu
authors.initials: MH
authors.lastname: Ta
authors.affiliation: Center for Gene-Protein Research, Hanoi Medical University, Hanoi, Vietnam; Department of Biochemistry, Hanoi Medical University, Hanoi, Vietnam.
authors.forename: Thinh Huy
authors.initials: TH
authors.lastname: Tran
authors.affiliation: Center for Gene-Protein Research, Hanoi Medical University, Hanoi, Vietnam.
authors.forename: Ngoc-Hai
authors.initials: NH
authors.lastname: Do
authors.affiliation: Center for Gene-Protein Research, Hanoi Medical University, Hanoi, Vietnam.
authors.forename: Le Anh-Tuan
authors.initials: le AT
authors.lastname: Pham
authors.affiliation: Karolinska Institutet, Department of Molecular Medicine, Clinical Genetics Unit, Karolinska University Hospital, SE-17176 Stockholm, Sweden.
authors.forename: The-Hung
authors.initials: TH
authors.lastname: Bui
authors.affiliation: Center for Gene-Protein Research, Hanoi Medical University, Hanoi, Vietnam; Department of Biochemistry, Hanoi Medical University, Hanoi, Vietnam.
authors.forename: Van-Thanh
authors.initials: VT
authors.lastname: Ta
authors.affiliation: Center for Gene-Protein Research, Hanoi Medical University, Hanoi, Vietnam. Electronic address: tranvankhanh@hmu.edu.vn.
authors.forename: Van-Khanh
authors.initials: VK
authors.lastname: Tran
mesh_terms: D000649:Amniocentesis; D001483:Base Sequence; D016189:Dystrophin / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D008040:Genetic Linkage; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D018895:Microsatellite Repeats; D060885:Multiplex Polymerase Chain Reaction; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D017384:Sequence Deletion; D014744:Vietnam
chemical_list: D016189:Dystrophin
keywords: Duchenne muscular dystrophy; MLPA; STR analysis; prenatal diagnosis