Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia.
Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia.
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利用 DNA 多态性进行产前诊断。
DOI：
10.1056/nejm198305053081803
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发表时间：
1983
期刊：
影响因子：
--
通讯作者：
KazazianJr,HH
中科院分区：
文献类型：
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作者：
Boehm,CD;Antonarakis,SE;Phillips3rd,JA;Stetten,G;KazazianJr,HH
DNA多态是DNA中正常的遗传变异，通常可以用来证明导致疾病的基因的遗传。在这份报告中，我们总结了95例胎儿有患血红蛋白病风险的孕妇的产前诊断经验；诊断是利用β-珠蛋白基因附近的dna多态进行的，以至于它们与该基因一起遗传。在95例妊娠中，57例胎儿有患镰状细胞性贫血的风险，32例胎儿有β地中海贫血的风险，6例胎儿有患其他β链状血红蛋白疾病的风险。仅通过对82例(86%)羊膜穿刺术后回收的细胞进行DNA多态分析即可确诊，另有6例(6%)通过胎儿镜检和胎儿血液检查完成诊断。到目前为止，所有78例确诊病例的产前诊断都被证明是正确的。我们的经验表明，在无法直接检测到基本缺陷的遗传病的产前诊断中，DNA多态是有用的。《英国医学杂志》1983；308：1054-8。
DNA polymorphisms are normal inherited variations in DNA that can often be used to document the inheritance of genes that produce disease. In this report we summarize our experience with prenatal diagnosis in 95 pregnancies in which the fetus was at risk for a hemoglobinopathy; the diagnosis was performed with use of DNA polymorphisms located so near the β-globin gene that they are inherited along with that gene. Of the 95 pregnancies, 57 involved fetuses at risk for sickle-cell anemia, 32 fetuses at risk for β-thalassemia, and 6 fetuses at risk for other β-chain hemoglobinopathies. Diagnosis was achieved solely by analysis of DNA polymorphisms in cells recovered by amniocentesis in 82 cases (86 per cent) and was completed by fetoscopy and fetal-blood study in an additional 6 cases (6 per cent). Prenatal diagnosis was proved correct in all 78 cases that have been available for confirmation to date. Our experience demonstrates that DNA polymorphisms can be useful for the prenatal diagnosis of genetic diseases in which the basic defect cannot be directly detected. (N Engl J Med 1983; 308:1054–8.)