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本研究采用聚合酶链反应(PCR)技术,完成了20例重症β-地中海贫血(β-地贫)及2例重症α-地中海贫血(α-地贫)高危胎儿的产前基因诊断。20倒重症β-地贫高危胎儿中,双重杂合子及纯合子6例,杂合子10例,正常胎儿4例,其中10例已经正常分娩后或流产后基因分析验证,结果与产前诊断完全一致。讨论了三种取材方法及影响PCR的主要因素。PCR技术具有简便快速、早期取材、诊断率高及结果准确可靠等优点,便于推广使用。
In this study, prenatal genetic diagnosis of 20 cases of severe β-thalassemia and 2 cases of high-risk fetus with severe α-thalassemia were completed by polymerase chain reaction (PCR). 20 cases of severe β-thalassemia high-risk fetus, double heterozygotes and homozygotes in 6 cases, 10 cases of heterozygotes, normal fetus in 4 cases, of which 10 cases have been normal after delivery or post-abortion genetic analysis of the results and prenatal diagnosis complete Consistent. Three methods of drawing and the main factors affecting PCR were discussed. PCR technology has the advantages of simple and quick, early drawing, high diagnostic accuracy and accurate and reliable results, etc., easy to promote the use.