β-地中海贫血的基因诊断及产前基因诊断

Genetic and prenatal gene diagnosis of β-thalassemia. SONG Dan,

目的 减少 β -地中海贫血重症患儿的出生。方法 对 10 6例经血液学筛查疑为 β -地中海贫血的杂合子携带者行PCR -RDB法进行基因诊断及产前基因诊断。结果 共筛出 β -地中海贫血阳性患者 5 2例 ;19例产前基因诊断中 ,确定正常胎儿 9例 ,重症胎儿 2例 (纯合子 1例 ,双重杂合子 1例 ) ,重症 β -地中海贫血胎儿诊断后采取引产术终止妊娠。结论 PCR -RDB法进行基因诊断及产前基因诊断有效避免了重症患儿的出生 。

Objective To reduce the birth rate of β-thalassemia major and improve the quality of population. Methods 106 cases and 19 pregnant women were screened with hematological data to find out carriers of β-thalassemia . The blood samples of them were analyzed with PCR and reverse dot blot (PCR-RDB). Results Among 106 cases of genetic diagnosis ,there were 52 cases of β-thalassemia, among 19 cases of prenatal gene diagnosis, nine were completely normal while two were with β-thalassemia major(one homozygous and one compound heterozygous) who were aborted after prenatal gene diagnosis. Conclusion PCR-RDB assay is effective in preventing the birth of β-thalassemia major.