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本文报告4例妊娠6～9周的孕妇吸取胎儿绒毛提取足量的DNA。分别用a、(?)—珠蛋白基因探针进行限制性内切酶谱分析,对怀疑α—地中海贫血(α地贫)的胎儿行产前基因诊断,3例已经分娩,1例实行人工引产,取脐血或肝脾组织做基因分析,其结果与产前诊断完全一致。α地贫是一类遗传性疾病,在世界上不少地区和我国南方相当常见,严重地危害人民的健康。根据初步调查,我国α地贫发生率为2.93％,在广西高达14.9％。此病目前尚无有效的治疗方法,因此开展产前诊断,控制患婴,特别是HbH病和HbBarts胎儿水肿的出生是预防、减少乃至最后消灭此病的根本措施。我们吸取早孕绒毛对9例α地贫的孕妇并可疑有α地贫患婴出生者进行了产前诊断,其中4例已有结果,3例已经分娩,1例实行人工引产、取脐带血或肝脾组织进行基因分析与产前预测完全一致,其余病例正在妊娠中。
This article reports 4 pregnant women 6 to 9 weeks pregnant fetus fetus extract enough DNA. Respectively using a, (?) - globin gene probe for restriction endonuclease profiling, prenatal genetic diagnosis of fetuses suspected of alpha-thalassemia (alpha thalassemia), 3 cases of childbirth, 1 case of artificial Induction of labor, take umbilical cord blood or liver and spleen tissue genetic analysis, the results of prenatal diagnosis consistent. Alpha thalassemia is a hereditary disease that is quite common in many parts of the world and in southern China, and seriously endangers people’s health. According to the preliminary investigation, the incidence of α-thalassemia in China is 2.93%, up to 14.9% in Guangxi. The disease is currently no effective treatment, so to carry out prenatal diagnosis and control of infants, especially HbH and HbBarts birth of fetal edema is to prevent, reduce and eventually eliminate the disease of the fundamental measures. Prenatal diagnosis of 9 cases of α-thalassemia pregnant women and suspicious birth to α-thalassemia were conducted in early pregnancy villus, of which 4 cases had been confirmed, 3 cases had been delivered, 1 case had induced labor, and umbilical cord blood or Genetic analysis of liver and spleen tissue is consistent with prenatal prediction, and the remaining cases are in pregnancy.