国际妇产科学杂志

国际妇产科学杂志 ›› 2012, Vol. 39 ›› Issue (2): 208-210.

• 论著 • 上一篇    下一篇

2 171例地中海贫血产前基因诊断回顾性分析


杜 丽 ,尹爱华,张 彦, 梁驹卿, 周伟宁, 汪安石, 兰菲菲 , 李海霞   

  1. 510010 广州,广东省妇幼保健院暨广东省妇女儿童医院产前诊断中心
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2012-04-15 发布日期:2012-04-15
  • 通讯作者: 尹爱华

Prenatal Diagnosis of Thalassemia in 2 171 Cases

DU Li，YIN Ai-hua，ZHANG Yan，LIANG Ju-qing，ZHOU Wei-ning，WANG An-shi，LAN Fei-fei，LI Hai-xia   

  1. The Prenatal Diagnosis Center，Women and Children Hospital of Guangdong Province，Guangzhou 510010，China
  • Received:1900-01-01 Revised:1900-01-01 Published:2012-04-15 Online:2012-04-15
  • Contact: YIN Ai-hua

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摘要： 目的：对广东省妇女儿童医院产前诊断中心1 506例α地中海贫血和665例β地中海贫血产前基因诊断进行回顾性分析。方法：对α地中海贫血产前基因诊断采取裂隙聚合酶链反应（gap-PCR）以及PCR结合反向点杂交（RDB）方法，β地中海贫血产前基因诊断采取PCR结合RDB方法，若夫妇一方携带少见突变则加用DNA测序方法。结果：1 506例α地中海贫血产前基因诊断病例中共检测出262例水肿胎，72例血红蛋白H病。665例β地中海贫血产前基因诊断病例中共检测出174例重型β地中海贫血。结论：地中海贫血产前基因诊断有效减少了水肿胎和重型β地贫患儿的出生，对于优生优育、减少围生期并发症具有重要意义。

关键词: α地中海贫血, β地中海贫血, 产前诊断, 基因, DNA突变分析, 水肿, 胎儿

Abstract: Objective：To make a retrospective analysis about 1 506 prenatal diagnosis cases of α-thalassemia and 665 cases of β-thalassemia in the prenatal diagnosis center of women and children hospital of Guangdong Province. Methods：Gap-PCR and polymerase chain reaction-reverse dot blot（PCR-RDB）assay. DNA sequencing was used in the case when unusual mutation was identified in at least one parent. Results：262 cases of Bart′s fetuses and 72 cases of Hb H were detected in 1 506 cases of α-thalassemia prenatal diagnosis. Meanwhile，174 fetuses with complex mutation were final diagnosed from 665 cases of β-thalassemia prenatal diagnosis. Conclusions：Prenatal diagnosis of thalassemia can effectively reduce the birth of Bart′s fetuses and seriously β-thalassemia，and it has the vital significance for eugenic birth and decrease of the perinatal complication.

Key words: Alpha-thalassemia, Beta-thalassemia, Prenatal diagnosis, Genes, DNA mutational analysis, Hydrops fetalis