Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis.
Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis.
复制标题
通过 DNA 分析改进镰状突变检测：在产前诊断中的应用。
DOI：
10.1056/nejm198207013070106
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发表时间：
1982
期刊：
影响因子：
--
通讯作者：
Boehm,CD
中科院分区：
文献类型：
--
作者：
Orkin,SH;Little,PF;KazazianJr,HH;Boehm,CD
人类胎儿镰状血红蛋白的检测是在近10年前首次完成的。1，2这标志着血红蛋白病产前诊断技术的开始。当采集胎儿血液和分析珠蛋白链合成的方法被开发出来后，镰状细胞贫血和地中海贫血综合征的产前诊断成为现实。3，4现在全世界已经研究了近2000名有患这些疾病风险的胎儿。5然而，由于这些侵入性程序造成的约5%的胎儿损失为开发使用胎儿DNA而不是DNA的诊断方法提供了动力。. .
DETECTION of sickle hemoglobin in the human fetus was first accomplished nearly 10 years ago.1,2This marked the beginning of a technology for prenatal diagnosis of the hemoglobinopathies. When methods for acquisition of fetal blood and for analysis of globin-chain synthesis were developed, the prenatal diagnosis of sickle-cell anemia and the thalassemia syndromes became a practical reality.3,4Nearly 2000 fetuses at risk for these disorders have now been studied worldwide.5However, a fetal loss of about 5 per cent due to these invasive procedures has provided the impetus for the development of diagnostic approaches that use fetal DNA rather than . . .