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- W2386181254 abstract "Objective:To establish a method of preimplantation genetic diagnosis(PGD) for autosomal dominant polycystic kidney disease(ADPKD)caused by PKD1 mutation.Method:PCR and capillary electrophoresis were used to analysis microsatellite markers KG8,SM6,CW4 and CW2 linked to PKD1 and D4S1534,D4S1563,D4S414 and D4S423 linked to PKD2 in two ADPKD families to find out the possible mutation of the 2 families.Then,microsatellite typing was performed using multiplex nested PCR and capillary electrophoresis in 5 embryos(15 blastomeres),which were discarded after in vitro fertilization and embryo transfer in an ADPKD male caused by PKD1 mutation,and 18 lymphocytes from a normal donor.Result:Microsatellite markers KG8,CW4 and CW2 can be used for linkage analysis in peripheral blood and single cells.The linkage analyses confirmed that ADPKD in the two families were caused by PKD1 mutation.The PCR amplification success rates of single blastomeres and single lymphocytes were 88.89%(13/15) and 86.67%(16/18),respectively.The allele drop-out(ADO) rate of CW4 was 25%(4/16),while ADO did not occurred in CW2.Contamination rate was zero.Two embryos were mutation-affected.Conclusion:The linkage analysis using microsatellite markers can be used in PGD of ADPKD caused by PKD1 mutation." @default.
- W2386181254 created "2016-06-24" @default.
- W2386181254 creator A5044380530 @default.
- W2386181254 date "2009-01-01" @default.
- W2386181254 modified "2023-09-24" @default.
- W2386181254 title "Experimental research on preimplantation genetic diagnosis for autosomal dominant polycystic kidney disease" @default.
- W2386181254 hasPublicationYear "2009" @default.
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