Gene diagnosis for nine Chinese patients with DMD/BMD by multiplex ligation-dependent probe amplification and prenatal diagnosis for one of them.

Journal of Clinical Laboratory Analysis
Yupeng WuYuhua Niu

Abstract

This study aims to perform gene diagnosis for nine patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and their parents with multiplex ligation-dependent probe amplification (MLPA), and to carry out prenatal gene diagnosis for one of them. Genomic DNA of the peripheral blood and fetal amniotic fluid cell was extracted from the pedigrees' members with DMD/BMD. Gene diagnosis was performed for theses pedigrees' members using a SALSA KIT. Short tandem repeats (STR) genotyping and X-linkage analysis were performed for the pedigree members of the fetus, which was used in the prenatal diagnosis. MLPA analysis results show that five of nine patients (DMD-1, DMD-2, DMD-4, DMD-8, and DMD-9) with DMD/BMD were found to have several hemizygous exon deletions in the dystrophin gene. The other patients and the fetus did not have any hemizygous deletion or duplication of any exons. The genomic DNA of the fetus was not contaminated by his mother's DNA as identified by STR genotyping. In addition, X-linkage analysis results show that the only X chromosome of the fetus comes from one of his mother's normal X chromosomes. Combined with STR genotyping and X-linkage analysis, MLPA is a convenient, highly effective and reliable gene diagnosi...Continue Reading

References

Apr 1, 1992·Human Molecular Genetics·J T Den DunnenH Y Steensma
Jan 1, 1992·Journal of Inherited Metabolic Disease·R G Worton
Mar 15, 1992·Proceedings of the National Academy of Sciences of the United States of America·R G RobertsD R Bentley
Apr 27, 1991·Lancet·K M BushbyD Gardner-Medwin
Nov 1, 1990·Human Genetics·A H BeggsL M Kunkel
Jun 22, 1989·Nature·J L Mandel
Mar 1, 1987·Human Genetics·M L MostacciuoloC Angelini
Jan 1, 1997·Human Mutation·R SitnikM R Passos-Bueno
Nov 26, 1998·Neuromuscular Disorders : NMD·C RosenbergJ T Den Dunnen
Jun 15, 2000·European Journal of Human Genetics : EJHG·A H LigonL G Shaffer
Mar 7, 2001·Lancet·V Jay, J Vajsar
Oct 4, 2003·Nature Reviews. Genetics·Judith C T van Deutekom, Gert-Jan B van Ommen
Nov 22, 2005·Biochemical and Biophysical Research Communications·Monica TraversoFederico Zara
Mar 15, 2006·Journal of Obstetrics and Gynaecology Canada : JOGC = Journal D'obstétrique Et Gynécologie Du Canada : JOGC·R D WilsonUNKNOWN Genetics Committee of the Society of Obstetricians and Gynaecologists of Canada
Oct 27, 2006·Gene Therapy·K FosterJ G Dickson
Dec 6, 2006·Biomolecular Engineering·Lucia Anna MuscarellaLeopoldo Zelante
Nov 7, 2007·Trends in Molecular Medicine·Giulio Cossu, Maurilio Sampaolesi
May 13, 2008·Genetic Testing·Ana Claudia Velázquez-WongRamón Coral-Vázquez
Jun 19, 2008·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Marie SoegaardSusan J Ramus
Nov 13, 2008·Expert Review of Molecular Diagnostics·Ossie Geifman-Holtzman, Janet Ober Berman

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Citations

Jan 9, 2016·The Journal of Molecular Diagnostics : JMD·Man Jin KimMoon-Woo Seong
Apr 3, 2012·Prenatal Diagnosis·Alecia S WillisChristine M Eng
Mar 10, 2011·Current Opinion in Obstetrics & Gynecology

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