Adewole T A, Olukosi Y A, Disu F, Akinde J A, Emuveyan E, Adesemoye E, Akinyanju O O, Afonja O A
Nigerian Institute of Medical Research, Yaba, Lagos, Nigeria.
West Afr J Med. 1999 Jul-Sep;18(3):160-4.
Although sickle-cell disease is very common in Nigeria, control by prenatal testing is lacking. The polymerase chain reaction-based technology combined with chorionic villi sampling has enabled us to offer prenatal diagnosis of sickle cell disease to 50 pregnant women who were at risk of bearing children with sickle cell anaemia. DNA was extracted from the villus and subjected to either PCR and restriction enzyme (Dde I) analysis (36 samples) or to PCR-ARMS procedure (12 samples) or to both procedures when the results by the first procedure were equivocal (2 samples). The genotypic distribution was 13AA, 25AS and 11SS. In one case, it was not possible to determine the genotype of the villi by both methods. A post delivery genotype analysis confirms the correctness of prenatal diagnosis in all the 42 subjects that has so far reported. The results clearly demonstrate the usefulness of the PCR method in the prenatal diagnosis of sickle-cell anaemia in this environment.
尽管镰状细胞病在尼日利亚非常常见，但缺乏通过产前检测进行的控制。基于聚合酶链反应的技术与绒毛取样相结合，使我们能够为50名有生育镰状细胞贫血患儿风险的孕妇提供镰状细胞病的产前诊断。从绒毛中提取DNA，并对其进行聚合酶链反应和限制性内切酶（Dde I）分析（36个样本），或进行聚合酶链反应扩增不应性突变系统程序（12个样本），当第一种程序的结果不明确时，则对两种程序都进行检测（2个样本）。基因型分布为13例AA、25例AS和11例SS。在一个案例中，两种方法都无法确定绒毛的基因型。产后基因型分析证实了到目前为止报告的所有42名受试者产前诊断的正确性。结果清楚地证明了聚合酶链反应方法在这种环境下对镰状细胞贫血产前诊断的有用性。
