摘要目的探讨宫内胎肝细胞移植是否形成人工血小板杂合子嵌合体,评估其在治疗血小板无力症的临床应用前景.方法选择血小板膜GPⅡb Bak a/b(GPⅡb异亮氨酸843丝氨酸多态性)作为遗传标记,采用等位基因特异引物PCR和FOKⅠ限制性内切酶消化技术从42名引产妇筛选一例纯合子GPⅡb Bak a/a作为供者,一例纯合子GPⅡb Bak b/b作为受者, 制备供者胎肝细胞,取4?ml(22×105细胞)在B超引导下通过脐静脉穿刺输给受者.结果移植后21天,用PCR-FOKⅠ消化技术检测引产后受者外周血DNA和血小板RNA,发现已形成Bak a/b嵌合体.结论我们认为宫内胎肝细胞移植可能提供一种治疗血小板无力症和其他遗传性疾病的方法.

abstractsAbstract:Objective To investigate whether artificial heterozygous chimeras of platelets can be established by intrauterine transplantation of fetal liver stem cells and evaluate its potential use for the treatment of Glanzmann thrombasthenia.Methods Platelet glycoprotein (GP) Ⅱb Bak a/b (or GPⅡb Ⅰle843Ser) was used as a genetic marker. A homozygous 16-week-old Bak a/a fetus (as donor) and a homozygous 16.5-week-old Bak b/b fetus (as recipient) were screened from 42 pregnant women hospitalized for abortion. PCR with allele specific primers and FOK Ⅰ digestion based on PCR products were used. Aborted donor fetal liver cell suspensions were prepared and intrauterine transplantation was carried out by infusion of 4?ml fetal liver cells (22×105) into the recipient umbilical vein under ultrasonic visualization.Results At gestation termination (abortion), 21 days after transplantation, chimera GPⅡb Bak a/b of the recipient were detected by FOK 1 digestion based on PCR from DNA and RT-PCR from platelet RNA. Conclusion Intrauterine transplantation of fetal liver cell may provide an effective way for curing GT or other inherited diseases.