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Preimplantation genetic diagnosis of Duchenne muscular dystrophy by single cell triplex PCR / 中南大学学报(医学版)
Journal of Central South University(Medical Sciences) ; (12): 246-251, 2007.
Article Dans Chinois | WPRIM | ID: wpr-813899
ABSTRACT
OBJECTIVE@#To detect two exons of Duchenne muscular dystrophy (DMD) gene and a gender discrimination locus amelogenin gene by single cell triplex PCR, and to evaluate the possibility of this technique for preimplantation genetic diagnosis (PGD) in DMD family with DMD deletion mutation.@*METHODS@#Single lymphocytes from a normal male, a normal female, two DMD patients (exon 8 and 47 deleted, respectively) and single blastomeres from the couples treated by the in vitro fertilization pre-embryo transfer (IVF-ET) and without family history of DMD were obtained. Exons 8 and 47 of DMD gene were amplified by a triplex PCR assay, the amelogenin gene on X and Y chromosomes were co-amplified to analyze the correlation between embryo gender and deletion status.@*RESULTS@#In the normal single lymphocytes, the amplification rate of exons 8 and 47 of DMD and amelogenin gene were 93.8%, 93.8%, and 95.3% respectively. The false positive rate was 3.3%. In the exon 8 deleted DMD patient, the amplification rate of exon 47 of DMD and amelogenin gene was 95.8%, and the false positive rate was 3.3%. In the exon 47 deleted DMD patient, the amplification rate of exon 8 of DMD and amelogenin gene was 95.8%, and the false positive rate was 0. In the single blastomeres, the amplification rate of exons 8 and 47 of DMD and amelogenin gene was 82.5%, 80.0% and 77.5%, respectively, and the false positive rate was 0.@*CONCLUSION@#The single cell triplex PCR protocol for the detection of DMD and amelogenin gene is highly sensitive, specific and reliable, and can be used for PGD in those DMD families with DMD deletion mutation.
Sujets)
Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Blastomères / Sang / Lymphocytes / Réaction de polymérisation en chaîne / Exons / Délétion de gène / Diagnostic préimplantatoire / Myopathie de Duchenne / Analyse cytogénétique / Biologie cellulaire Type d'étude: Etude diagnostique / Guide de pratique Limites du sujet: Femelle / Humains / Mâle / Grossesse langue: Chinois Texte intégral: Journal of Central South University(Medical Sciences) Année: 2007 Type: Article

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Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Blastomères / Sang / Lymphocytes / Réaction de polymérisation en chaîne / Exons / Délétion de gène / Diagnostic préimplantatoire / Myopathie de Duchenne / Analyse cytogénétique / Biologie cellulaire Type d'étude: Etude diagnostique / Guide de pratique Limites du sujet: Femelle / Humains / Mâle / Grossesse langue: Chinois Texte intégral: Journal of Central South University(Medical Sciences) Année: 2007 Type: Article