引物延伸预扩增用于胚胎种植前诊断的实验研究  

Expernmental study on preimplantation genetic diagnosis by primer extension preamplification

作　　者：马锦琪[1] 盛毅[2] 赵亚南[2] 纪亚忠[2] 

机构地区：[1]无锡市第五人民医院妇产科,214023 [2]上海长海医院生殖医学中心,200433

出　　处：《中国优生与遗传杂志》2003年第2期86-88,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的　用引物延伸预扩增 (PEP)方法对种植前胚胎进行单基因病诊断的实验研究。方法　取IVF后剩余胚胎的一个卵裂球用PEP方法 ,扩增SRY、ZP3 、RhCE、RhD和FVIII 5个基因 ,而同一胚胎的另一个卵裂球双重套式PCR扩增SRY和ZP3 基因。结果　PEP分析分别由 6个胚胎获得的 6个卵裂球 ,1- 4号胚胎有 19个基因呈阳性 (19/ 2 0 ) ,1个基因阴性 ,5 ,6号胚胎除SRY均阴性 ,其余基因为阳性 ;而 6个胚胎的卵裂球双重套式PCR扩增SRY和ZP3 基因的结果与同一胚胎PEP的结果相同。结论　采用PEP方法进行种植前胚胎单基因病的诊断是可靠、准确的 ,且可用于无创性产前诊断。Objective:To diagnose some single gene inheritance disease of preimplantation embryos by primer extension preamplification(PEP).Methods:Two single-cell from the same arrested human embryo were evaluated.Five genes,that is,SRY,ZP 3 RhCE,RhD,FVIII,were analyzed using PEP in one cell,and SRY,ZP 3 were analyzed using nested PCR in another cell.Results:There were six embryos analyzed by PEP.In No.1-4,19 genes were positive(19/20)and one gene was nagitive.In No.5-6 embryos,SRY was negative and the others were positive.Using nested-PCR,the amplification of SRY and ZP 3 gene were corresponding with the result of blastomere from the same embryo,which had been diagnosed by PEP.Conclusion:It is efficient and accurate to diagnose some single gene inheritance disease of preimplantion embryos by PEP and can be used in not only preimplantation genetic diagnosis(PGD)but also noninvasive prenatal diagosis.

关 键 词：引物延伸预扩增 实验 单基因病 胚胎种植前诊断 误诊 基因诊断 

分 类 号：R714.5[医药卫生—妇产科学]