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改进的直接分子诊断和快速胎儿性别鉴定。

Improved direct molecular diagnosis and rapid fetal sexing.

作者信息

Hoar D I, Haslam D B, Starozik D M

出版信息

Prenat Diagn. 1984 Jul-Aug;4(4):241-7. doi: 10.1002/pd.1970040402.

Abstract

Adaptations of the techniques of modern molecular biology to prenatal diagnosis has opened new avenues for the detection of genetic diseases. We have taken advantage of the rapid adhesion of colony forming cells in cultured amniotic fluid samples to develop an improved method for molecular diagnosis. By employing the cell adherence regime sickle cell diagnosis using Mst II can be undertaken directly. In addition, hybridization with a cloned repetitive sequence that is of Y origin and has limited autosomal homology permits rapid fetal sexing in 3 to 4 days without compromising conventional cytogenetic or biochemical analysis. This combination of techniques provides a useful adjunct to convential prenatal genetic diagnosis in the second trimester.

摘要

现代分子生物学技术应用于产前诊断,为遗传疾病的检测开辟了新途径。我们利用培养的羊水样本中集落形成细胞的快速黏附特性,开发出一种改进的分子诊断方法。通过采用细胞黏附方法,可直接使用Mst II进行镰状细胞诊断。此外,与源自Y染色体且常染色体同源性有限的克隆重复序列杂交,能在3至4天内快速鉴定胎儿性别,同时不影响传统的细胞遗传学或生化分析。这些技术的结合为孕中期的传统产前基因诊断提供了有用的辅助手段。

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