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- W2374833338 abstract "【Objective】To carry out preimplantation genetic diagnosis (PGD) for duchenne muscular dystrophy (DMD), and prevent the birth of affected infant with DMD. 【Method】Amplifying the DNA of single lymphocytes from the patient and the carrier of DMD, of single blastomeres from healthy volunteer female donor treated by in-vitro fertilization and embryo transplantation (IVF-ET) with nested-PCR detected the deleted exon 48 within dystrophin gene, so that established a stable method of diagnosing DMD by single cell. Then PGD was accomplished with biopsied blastomeres from cleavage-stage embryos of the carrier of DMD in IVF-ET at our reproductive center, and the unaffected high quality embryos were chosen according to the result of PGD and were transferred into the uterus of the DMD carrier. 【Results】Successful amplification rates of exon 48 locus of dystrophin gene in single lymphocytes from the carrier and single blastomeres from healthy volunteer female donor were 90.5 %(95/105) and 85.7% (54/63), respectively. The false positive rate is 0 (0/28). 3 cycles of PGD from the DMD carrier was accomplished, which resulted in transfer of 2 unaffected high quality embryoes in patient 1 and the singleton pregnancy ensued, finally a healthy female infant was born at April, 2005. 2 unaffected good quality embryoes were transferredto patient 2. Unfortunately, no pregnancy ensued. In patient 3, only 2 unaffected poor quality embryoes were obtain, no transplantation ensued. 【Conclusions】The protocol was suitable for the PGD of DMD family with the deletion mutation of exon 48 and had attained the purpose of preventing the birth of affected infant with DMD." @default.
- W2374833338 created "2016-06-24" @default.
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- W2374833338 date "2009-01-01" @default.
- W2374833338 modified "2023-09-23" @default.
- W2374833338 title "Preimplantation genetic diagnosis of duchenne muscular dystrophy (DMD)" @default.
- W2374833338 hasPublicationYear "2009" @default.
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