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目的对217例可疑为中、重度α地中海贫血胎儿进行α地贫基因羊水产前诊断,以此降低出生缺陷率。方法应用裂口-聚合酶链反应(裂口-PCR)法及PCR结合反向点杂交技术(RDB-PCR),对胎儿羊水样本进行中国人常见的α地中海贫血三种缺失型基因和三种突变型基因进行检测。结果在受检的217份羊水中,共检出正常胎儿50例(23.04%),α地中海贫血静止型15例(6.91%),轻型81例(37.32%),中间型39例(17.97%),重型32例(14.74%)。结论通过地贫基因检测技术行羊水产前诊断可有效的避免中、重度α地中海贫血胎儿的出生,从而降低出生缺陷率。
OBJECTIVE: To investigate the prenatal diagnosis of α-thalassemia gene in 217 suspected fetuses with moderate and severe α-thalassemia, and to reduce the birth defect rate. Methods Three types of α-thalassemia deletion gene and three mutant forms of Chinese common human amniotic fluid were detected by RAGE-PCR and PCR-RDB-PCR. Gene testing. Results Among the 217 samples of amniotic fluid examined, 50 (23.04%) were normal fetuses, 15 (6.91%) were silent thalassemia, 81 (37.32%) were mild and 39 (17.97%) were intermediate , Heavy type in 32 cases (14.74%). Conclusion Prenatal diagnosis of amniotic fluid by thalassemia genetic testing can effectively prevent the birth of fetuses with moderate and severe α-thalassemia and reduce the birth defect rate.