Rapid method for targeted prenatal diagnosis of Duchenne muscular dystrophy in Vietnam
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-depende...
Main Authors: | , , , , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2013-12-01
|
Series: | Taiwanese Journal of Obstetrics & Gynecology |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455913001770 |
id |
doaj-5fe2415b7015464b9922f263812baaed |
---|---|
record_format |
Article |
spelling |
doaj-5fe2415b7015464b9922f263812baaed2020-11-25T01:06:06ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592013-12-0152453453910.1016/j.tjog.2013.10.014Rapid method for targeted prenatal diagnosis of Duchenne muscular dystrophy in VietnamMinh-Hieu Ta0Thinh Huy Tran1Ngoc-Hai Do2Le Anh-Tuan Pham3The-Hung Bui4Van-Thanh Ta5Van-Khanh Tran6Center for Gene-Protein Research, Hanoi Medical University, Hanoi, VietnamCenter for Gene-Protein Research, Hanoi Medical University, Hanoi, VietnamCenter for Gene-Protein Research, Hanoi Medical University, Hanoi, VietnamCenter for Gene-Protein Research, Hanoi Medical University, Hanoi, VietnamKarolinska Institutet, Department of Molecular Medicine, Clinical Genetics Unit, Karolinska University Hospital, SE-17176 Stockholm, SwedenCenter for Gene-Protein Research, Hanoi Medical University, Hanoi, VietnamCenter for Gene-Protein Research, Hanoi Medical University, Hanoi, VietnamObjective: 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. Materials and 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. Conclusion: 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.http://www.sciencedirect.com/science/article/pii/S1028455913001770Duchenne muscular dystrophyMLPAprenatal diagnosisSTR analysis |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Minh-Hieu Ta Thinh Huy Tran Ngoc-Hai Do Le Anh-Tuan Pham The-Hung Bui Van-Thanh Ta Van-Khanh Tran |
spellingShingle |
Minh-Hieu Ta Thinh Huy Tran Ngoc-Hai Do Le Anh-Tuan Pham The-Hung Bui Van-Thanh Ta Van-Khanh Tran Rapid method for targeted prenatal diagnosis of Duchenne muscular dystrophy in Vietnam Taiwanese Journal of Obstetrics & Gynecology Duchenne muscular dystrophy MLPA prenatal diagnosis STR analysis |
author_facet |
Minh-Hieu Ta Thinh Huy Tran Ngoc-Hai Do Le Anh-Tuan Pham The-Hung Bui Van-Thanh Ta Van-Khanh Tran |
author_sort |
Minh-Hieu Ta |
title |
Rapid method for targeted prenatal diagnosis of Duchenne muscular dystrophy in Vietnam |
title_short |
Rapid method for targeted prenatal diagnosis of Duchenne muscular dystrophy in Vietnam |
title_full |
Rapid method for targeted prenatal diagnosis of Duchenne muscular dystrophy in Vietnam |
title_fullStr |
Rapid method for targeted prenatal diagnosis of Duchenne muscular dystrophy in Vietnam |
title_full_unstemmed |
Rapid method for targeted prenatal diagnosis of Duchenne muscular dystrophy in Vietnam |
title_sort |
rapid method for targeted prenatal diagnosis of duchenne muscular dystrophy in vietnam |
publisher |
Elsevier |
series |
Taiwanese Journal of Obstetrics & Gynecology |
issn |
1028-4559 |
publishDate |
2013-12-01 |
description |
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.
Materials and 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.
Conclusion: 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. |
topic |
Duchenne muscular dystrophy MLPA prenatal diagnosis STR analysis |
url |
http://www.sciencedirect.com/science/article/pii/S1028455913001770 |
work_keys_str_mv |
AT minhhieuta rapidmethodfortargetedprenataldiagnosisofduchennemusculardystrophyinvietnam AT thinhhuytran rapidmethodfortargetedprenataldiagnosisofduchennemusculardystrophyinvietnam AT ngochaido rapidmethodfortargetedprenataldiagnosisofduchennemusculardystrophyinvietnam AT leanhtuanpham rapidmethodfortargetedprenataldiagnosisofduchennemusculardystrophyinvietnam AT thehungbui rapidmethodfortargetedprenataldiagnosisofduchennemusculardystrophyinvietnam AT vanthanhta rapidmethodfortargetedprenataldiagnosisofduchennemusculardystrophyinvietnam AT vankhanhtran rapidmethodfortargetedprenataldiagnosisofduchennemusculardystrophyinvietnam |
_version_ |
1725191464295596032 |