α-地中海贫血种植前基因诊断妊娠成功

Preimplantation Genetic Diagnosis of Human Embryos with α-Thalassemia

【目的】探讨种植前基因诊断的临床应用。【方法】对 1例夫妇均为东南亚缺失型α 地中海贫血携带者 ,经超排取卵、卵母细胞单精子显微注射受精及胚胎细胞活检 ,吸取的单个卵裂球采用针对α SEA基因的 gap PCR引物和荧光探针用荧光定量PCR技术进行诊断 ,将诊断为不致病的 3个胚胎进行宫腔内移植。【结果】胚胎移植后 7周B超诊断单胎妊娠 ,18周羊膜腔穿刺产前诊断证实为不致病胎儿。【结论】应用成熟的显微操作技术进行胚胎细胞活检 ,活检的单个卵裂球用荧光定量PCR技术进行诊断 ,获得国内首例α 地中海贫血胚胎种植前基因诊断后妊娠成功。

To study the clinical implementation of preimplantation genetic diagnosis. One couple(1 cycle)with deletional α thalassemia of the Southeast Asian type(α SEA) received preimplantation genetic diagnosis. Ovarian stimulation was achieved and transvaginal ultrasound guide oocyte collections were done 36 hours after HCG injection. Mature oocytes were selected for ICSI. Embryos were biopsied and the removed single blastomere was amplified by fluorescence quantitative PCR (FQ PCR) with the gap α SEA gene primers and probes. Transcervical uterine transfer of 3 selected normal embryos was carried out after DNA analysis. Pregnancy was confirmed by the demonstration of one gestation sacs on ultrasonic examination 7 weeks after transfer. Prenatal diagnosis was done at the 18th week and unaffected fetus was identified. [Conclusion] Embryo biopsy can be successfully applied. Single blastomere can be amplified by fluorescence quantitative PCR (FQ PCR). This study represents the first successful application of preimplantation genetic diagnosis(PGD) for α thalassemia in China.