应用反向点杂交法产前诊断β-地中海贫血375例  

Prenatal diagnosis of β-thalassemia by reverse dot blot hybridization in 375 cases

作　　者：李坚[1] 李冬至[1] 廖灿[1] 冯琼[1] 

机构地区：[1]广州市妇婴医院优生围产研究所,510180

出　　处：《中国优生与遗传杂志》2007年第7期11-12,共2页Chinese Journal of Birth Health & Heredity

基　　金：广东省科委基金资助项目(2004B36001030);广州市科委基金资助项目(2006Z3-E0382)

摘　　要：目的探讨应用反向点杂交(RDB)产前诊断β-地中海贫血的实用性。方法对375例有出生重型β-地中海贫血患儿的孕妇用RDB方法进行产前诊断,若夫妇一方携带的为少见β-地中海贫血突变,则加用DNA测序方法。结果375例孕妇中有373(99.5%)例可以应用RDB作出产前诊断,有2例需要DNA测序完成。共377例胎儿中诊断出正常103(27.3%)例,轻型β-地中海贫血170(45.1%)例,重型104(27.6%)例。结论RDB是产前诊断β-地中海贫血较为适用的方法,能应用于在绝大多数产前诊断病例中。Objective： To control the birth of β -thalassemie children by means of reverse dot blot hybridization （RDB）. Methods ： DNA - based diagnosis was offered on fetal tissues in pregnancies when β - globin gene mutations were identifiable in both parents using polymerase chain reaction （PCR） - reverse dot blot （RDB） assay. DNA sequencing was used in pregnancies when mutation was unidentified in at least one parent. Results： Using reverse dot - blot, we were able to offer complete diagnosis in 373 （99. 5% ） of 375 pregnancies. Only two fetuses needed the DNA sequencing technique for diagnosis. Of the 377 at - risk fetuses, 103 （27.3%） were found to be normal, 170 （45.1%） to be heterozygous for β - thalassemia and 104 （27.6%） to be affected with b -thal. Conelusion： The combination of reverse dot - blot with direct DNA sequencing can perform prenatal diagnosis by DNA analysis in almost all cases at - risk of β - thalassemia.

关 键 词：Β-地中海贫血 反向点杂交 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]