α-地中海贫血的产前基因诊断  

Prenatal Gene Diagnosis of Alpha-Thalassemias

作　　者：邬玲千[1] 蔡珠[1] 黄志锋[1] 李小红[1] 卢雨零[1] 

机构地区：[1]广东韶关粤北人民医院,广东韶关512026

出　　处：《实用妇产科杂志》2001年第6期338-339,共2页Journal of Practical Obstetrics and Gynecology

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 。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.

关 键 词：Α-地中海贫血 聚合酶链反应 产前诊断 基因诊断 

分 类 号：R714.5[医药卫生—妇产科学] R556.61[医药卫生—临床医学]