α-地中海贫血的产前基因诊断  

Prenatal Gene Diagnosis of Alpha Thalassemias

作　　者：张秀泉[1,2] 李全贞[1,2] 吴艳[1,2] 何蕴韶[1,2] 朱承明[1,2] 周新宇[1,2] 

机构地区：[1]中山医科大学附属第三医院妇产科 [2]中山医科大学达安基因诊断中心

出　　处：《中华妇产科杂志》1998年第3期139-141,共3页Chinese Journal of Obstetrics and Gynecology

摘　　要：目的研究聚合酶链反应（ＰＣＲ）技术在α地中海贫血产前诊断中的价值。方法应用ＰＣＲ技术，对１１例父母双方均为α珠蛋白基因缺失杂合子的胎儿（１例双胎）行羊水产前基因诊断，扩增产物中出现２２４ｂｐＤＮＡ片段为正常α类珠蛋白基因序列，出现６３０ｂｐＤＮＡ片段的扩增带代表有α类珠蛋白基因缺失，若同时出现２２４ｂｐ和６３０ｂｐ两个ＤＮＡ片段的扩增带，则表示为杂合子。结果３例胎儿表现为基因正常序列（αα／αα），４例胎儿为杂合子（－－／αα）（其中１例为双胎之一），４例胎儿为纯合子（－－／－－）（其中１例为双胎之一）。Ｂ超检查疑有胎儿水肿的３例胎儿，经基因诊断仅有２例为纯合子，而另外１例为杂合子。引产的４例胎儿为纯合子α－地中海贫血，其中有１例全身水肿，２例为典型的Ｂａｒｔ′ｓ水肿儿，１例四肢短小、腹疝形成。结论ＰＣＲ技术用于α－地中海贫血的产前诊断，具有快速。Objective To study the value of polymerase chain reaction (PCR) in prenatal diagnosis of alpha thalassemias. Methods Amniotic fluid prenatal gene diagnosis with polymerase chain reaction was carried out on eleven fetuses whose parents are both heterozygotes with alpha globin gene deficiency. A DNA fragment of 224bp in the production means normal alpha globin gene sequence, while a 630bp fragment indicated the alpha globin gene deficiency. Both 224bp and 630bp fragments in the same sample means heterozygote. Results Three of the 11 fetuses (one pregnancy was twin) were with normal alpha globin gene sequence, while 4 were homozygotes and the other 4 were heterozygotes. For the 3 fetuses with ascitic fluid under ultrasound examination, 2 were homozygotes and the other one was heterozygote by gene diagnosis. Two of the 4 homozygotes from induced abortion were typical Bart′s syndrome, one was edema in the whole body and the other one with short limbs and abdominal hernia. Conclusion The method of PCR in prenatal diagnoses for detection of α thalassemias is simple, accurate and rapid.

关 键 词：Α地中海贫血 贫血 产前诊断 基因诊断 

分 类 号：R556.61[医药卫生—血液循环系统疾病] R714.55[医药卫生—内科学]