Article
Prenatal Diagnosis of Chromosomal Aneuploidies by Quantitative Pyrosequencing®.
Methods in molecular biology (Clifton, N.J.) - 1 Jan 2015
Ye Hui, Wu Haiping, Liu Yunlong, Zou Bingjie, Kajiyama Tomoharu, Kambara Hideki, Zhou Guohua
Abstract excerpt
One of the major reasons for pregnant women to ask for prenatal diagnosis is to detect fetal chromosomal aneuploidies. Analysis of allele ratios of SNPs has been used for prenatal detection of fetal aneuploidies using MALDI-TOF mass spectrometry (MS). However, quantitative SNP genotyping by MALDI-TOF MS is challenging. To obtain a better quantification of allelic ratios, a Pyrosequencing(®) protocol for SNP...
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