Gürgey A, Beksaç S, Mesci L, Cakar N, Karakaş U, Kutlar A, Altay C
Department of Pediatrics, Hacettepe University Faculty of Medicine.
Turk J Pediatr. 1993 Jul-Sep;35(3):159-62.
Prenatal diagnosis of sickle cell anemia was carried out in four fetuses using DNA technology. Fetal chorionic villus specimen were obtained at the 10th week of pregnancy from women at risk of giving birth to children with sickle cell anemia. Whole cellular DNA was obtained and the part of the DNA presumed to have a mutation increased after PCR was performed. After the application of Dde I restriction enzyme, mini gel electrophoresis was performed. The study of the electrophoretic patterns of the DNA indicated that one of the four fetuses was unaffected, one was a carrier and the remaining two were affected.
采用DNA技术对4例胎儿进行镰状细胞贫血的产前诊断。在妊娠第10周时，从有生育镰状细胞贫血患儿风险的妇女中获取胎儿绒毛膜绒毛样本。提取全细胞DNA，对推测有突变的DNA部分进行PCR扩增。应用Dde I限制性内切酶后，进行微型凝胶电泳。对DNA电泳图谱的研究表明，4例胎儿中1例未受影响，1例为携带者，其余2例受影响。
