应用反向点杂交技术产前诊断β-地中海贫血  

Prenatal diagnosis of β-thalassemia by reverse dot-blot hybridization

作　　者：李冬至[1] 李坚[1] 廖灿[1] 

机构地区：[1]广州市妇婴医院优生围产研究所,广州510180

出　　处：《中国产前诊断杂志（电子版）》2008年第1期25-26,共2页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的探讨应用反向点杂交技术(RDB)产前诊断β-地中海贫血的实用性。方法对375例有β-地中海贫血产前诊断指征的孕妇用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,则应用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,仅2例需要DNA测序完成;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,能应用于绝大多数产前诊断病例中。Objective To prevent the birth of severe β-thalassemic children by means of reverse dot-blot hybridization (RDB). Methods DNA-based diagnosis was offered on fetal tissues. Polymerase chain reaction (PCR)-reverse dot-blot (RDB) assay was used when β-thalassemia mutations were identifiable in both parents. DNA sequencing was used in pregnancies when mutation was unidentified in at least one parent.Results Using RDB,373(99.5%) of 375 pregnancies were completely diagnosed. 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.Conclusion 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 反向点杂交技术 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]