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α-地中海贫血的产前基因诊断
Prenatal Gene Diagnosis of Alpha-Thalassemias
【摘要】 目的 :应用 PCR技术 ,对 9例父母双方均为 γ珠旦白基因缺失杂合子的胎儿进行羊水产前基因诊断。方法 :聚合酶链反应 (PCR)技术。结果 :9例中 3例胎儿表现为基因正常序列 (aa/ aa) ,4例胎儿纯合子 (- - / - - ) ,2例胎儿为杂合子 (- - / aa)。B超检查疑有胎儿水肿的 3例胎儿 ,经基因诊断仅有 1例是纯合子 ,1例是杂合子和另 1例是正常。结论 :PCR在 α地中海贫血胎儿产前诊断决定胎儿是否存留的最可靠的方法 ,宣传教育和人群筛查十分必要 ,尽早发现杂合子夫妻 ,实施有效的产前诊断是降低水肿胎出生的根本所在
【Abstract】 Objective:Amniotic fluid prenatal gene diagnosis with polymerase chain reaction was carried out in nine heterozygotes fetuses with alpha globin gene deficiency.Methods:Polymerase chain reaction(PCR).Results:Three of the 9 fetuses were with normal alpha globin gene sequence,while 4 were homozygotes and the other 2 were heterozygotes.For the 3 fetuses with ascitic fluid under ultrasound examination.One was homozygotes,I another was heterozygotes and the other one was normal.Conclusion:PCR in prenatal diagnosis of Alphathalassemias fetus was the west reliable method for termination of pregnancy.It is very important to carry out prenatal check up and propaganda and education.
【Key words】 Alpha thalassemias; Polymerase chain reaction; Prenatal diagnosis;
- 【文献出处】 实用妇产科杂志 ,Journal of Practical Obstetrics and Gynecology , 编辑部邮箱 ,2001年06期
- 【分类号】R714.5
- 【被引频次】3
- 【下载频次】72