Autosomal dominant polycystic kidney disease-line pre-implantation genetic diagnosis of experimental study.docVIP

 PAGE \* MERGEFORMAT 18 Autosomal dominant polycystic kidney disease-line pre-implantation genetic diagnosis of experimental study Of: Zhu Qin, Xu Bingsen, Huang Xuefeng, Zhou Ying [Abstract] Objective: To establish the PKD1 mutation autosomal dominant polycystic kidney disease (autosomal dominant polycystic kidney disease, ADPKD) in preimplantation genetic diagnosis (preimplantation genetic diagnosis, PGD). Methods: The micro- satellite linkage analysis identified two families of ADPKD autosomal dominant polycystic kidney disease genes. testing including microsatellite linkage with PKD1 KG8, SM6, CW4 and CW2 and PKD2 linkage with D4S1534, D4S1563, D4S414 and D4S423. of 18 lymphocytes and a member of ADPKD caused by PKD1 mutations in routine IVF embryos discarded after five rows of 15 blastomeres multiplex nested PCR and capillary electrophoresis with PKD1 linked microsatellite genotyping. Results: KG8, CW4 and CW2 linked microsatellite analysis can be used as single cells in peripheral blood and the PKD1 mutation; 2 pedigrees of the disease genes are PKD1; single blastomere amplification success rate of 86.67% (13/15), a single lymphocyte amplification success rate was 88.89% (16/18), CW4 allele release was 25% (4 / 16), CW2 trip allele was not found, no detection of contamination, two embryos carrying disease genes . CONCLUSION: PKD1 linked microsatellite genotyping can be used as ADPKD PKD1 mutation of the PGD diagnosis. [Keywords:] autosomal polycystic kidney disease; PKD1; microsatellite; preimplantation genetic diagnosis; Genetics 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 fam