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Rapid Prenatal Gene Diagnosis of β-Thalassemia with PCR-RDB Assay

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Author:
No author available
Journal Title:
CHINESE JOURNAL OF PERINATAL MEDICINE
Issue:
4
DOI:
10.3760/cma.j.issn.1007-9408.2002.04.003
Key Word:
β地中海贫血;聚合酶链反应;产前诊断

Abstract´╝Ü 目的为了降低β地中海贫血重症患儿的出生率,达到优生的目的.方法对527对孕妇及其配偶进行血液学筛查,用PCR-RDB法对夫妇双方均为β地中海贫血携带者的孕期夫妇进行产前基因诊断,并取脐血验证结果.结果共筛出β地中海贫血阳性患者28例,轻型β地中海贫血阳性率为2.66%.男女阳性率为1:1.15,4例产前基因诊断中,确定正常胎儿1例,重症胎儿3例(纯合子1例,双重杂合子2例),重型β地中海贫血胎儿于诊断后两周内终止妊娠.结论PCR-RDB技术可有效减少β地中海贫血重症患儿的出生,具有重要的优生学意义.

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