多重等位基因特异多聚合酶链反应产前基因在诊断β-珠蛋白生成障碍性贫血中的应用  

Clinical application of prenatal screening to beta-thalassemia using multiple allele specific polymerase chain reaction

作　　者：汪凤兰[1] 李熙鸿[1] 李钦伯[1] 李强[1] 王晓阳[1] 孙冰[2] 

机构地区：[1]四川大学华西第二医院儿科,成都610041 [2]深圳市儿童医院

出　　处：《实用儿科临床杂志》2002年第6期584-586,共3页Journal of Applied Clinical Pediatrics

基　　金：四川省科委重点科研基金(项目编号:199819)

摘　　要：目的 探讨多重等位基因特异多聚合酶链反应(PCR)产前基因诊断β-珠蛋白生成障碍性贫血的临床应用价值。方法 在B超监视下对21名孕妇行羊膜腔穿刺,抽取羊水20ml,常规酚-氯仿法提取DNA,应用多重等位基因特异PCR检测其羊水细胞的β-珠蛋白的5种基因突变类型(CD17,CD41～42,IVS-Ⅱ654,nt-28,nt-29)。结果 检测的21例中,4例双重杂合子及1例纯合子,均选择流产。16例为正常或单个突变的杂合子,胎儿出生后取脐血验证并随访观察,现小儿9个月～3.2岁,均健康。结论 多重等位基因特异PCR可用于β-珠蛋白生成障碍性贫血高风险胎儿的产前基因诊断,在指导β-珠蛋白生成障碍性贫血阳性家系的选择性妊娠中具有一定的临床意义。Objectives To explore the clinical application of multiple allele specific polymerase chain reaction(PCR) (MASPCR) in prenatal gene to beta-thalassemia. Methods Amniotic fluid (20 ml) was drawn from fetuses of 21 pregnant mothers with high risks of beta-tha-lassemia, by amniocentesis under ultrasound monitoring; and DNA from fetal cells was extracted by conventional Phenol-Chloroform extraction. And then five mutation types were detected (CD17,CD41-42, IVS-Ⅱ 654, nt-28, nt-29) of beta-globin using MASPCR. Results Among them four fetuses were compound heterazygotes with two different mutations; one fetus was homozygotes with one mutation. Being high risk of beta-thalassemia , these fetuses were aborted by their parents. Sixteen cases were normal or heterozygotes with one mutation, and umbilical blood was rechecked after birth and by follow-up. They were found in good health in follow-up period ,ages ranging from 9 months to 3.2 years now. Conclusion These findings suggest that MASPCR can be used in prenatal gene diagnosis for the fetuses at high risk of beta-thalassemia. It is of clinical significance in selective pregnancy in pedigrees with positive family history.

关 键 词：多重等位基因 Β-珠蛋白生成障碍性贫血 产前诊断 基因突变 聚合酶链反应 

分 类 号：R714.5[医药卫生—妇产科学]