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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。
Objective To investigate the clinical value of multiple allele-specific polymerase chain reaction (PCR) prenatal diagnosis of β-globinogenic anemia. Methods A total of 21 pregnant women underwent amniocentesis under ultrasound monitoring, 20ml of amniotic fluid was drawn, DNA was extracted by conventional phenol-chloroform method, and 5 kinds of mutations of β-globin gene in amniocytes were detected by multiplex allele-specific PCR CD17, CD41-42, IVS-II654, nt-28, nt-29). Results Of the 21 cases detected, 4 cases of double heterozygotes and 1 case of homozygotes were aborted. 16 cases of normal or single heterozygous heterozygous fetus after birth to take cord blood verification and follow-up observation, children 9 months to 3.2 years old, are healthy. Conclusion Multiple allele-specific PCR can be used for prenatal diagnosis of high-risk fetuses with β-globinbacillary dysfunction and is of clinical significance in guiding selective gestation of β-globinogenic anemia-positive pedigrees.