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目的对1例α-地中海贫血患者进行植入前胚胎遗传学诊断。方法应用单细胞跨越断裂点荧光聚合酶链反应(PCR)检测技术对1例夫妇双方均为α-地贫杂合子进行了胚胎植入前诊断(PGD)。结果9个胚胎进行PGD,经PCR分析,共获得2个正常胚胎,其中一个胚胎体外发育停滞;2个杂合子胚胎,2个重型地贫胚胎,2个胚胎未检出;移植了3个胚胎,获得临床妊娠。孕17周时经脐带血穿刺,分别证实为完全正常胚胎和杂合子胚胎,现已出生两名健康男婴。结论应用PGD技术可对α-地贫进行胚胎植入前遗传筛查,达到优生的目的。
Objective To evaluate the preimplantation embryo genetic diagnosis of a patient with α-thalassemia. Methods Preimplantation preimplantation diagnosis (PGD) was performed on 1 case of both α-thalassemia heterozygotes and single-cell cross-breakpoint fluorescence polymerase chain reaction (PCR). Results Nine embryos were subjected to PGD. Two normal embryos were obtained by PCR analysis. One of the embryos developed in vitro. Two heterozygous embryos, two of which were not found in the two embryos and three embryos were transplanted. , Access to clinical pregnancy. 17 weeks pregnant by cord blood puncture, were confirmed as completely normal embryos and heterozygous embryos, is now born two healthy baby boy. Conclusion PGD can be applied to preimplantation genetic screening of a-thalassemia to achieve the goal of eugenics.