Article
Reliable detection of paternal SNPs within deletion breakpoints for non-invasive prenatal exclusion of homozygous α-thalassemia in maternal plasma.
PloS one - 1 Jan 2011
Yan Ti-Zhen, Mo Qiu-Hua, Cai Ren, Chen Xue, Zhang Cui-Mei, Liu Yan-Hui, Chen Ya-Jun, Zhou Wan-Jun, Xiong Fu, Xu Xiang-Min
Abstract excerpt
Reliable detection of large deletions from cell-free fetal DNA (cffDNA) in maternal plasma is challenging, especially when both parents have the same deletion owing to a lack of specific markers for fetal genotyping. In order to evaluate the efficacy of a non-invasive prenatal diagnosis (NIPD) test to exclude α-thalassemia major that uses SNPs linked to the normal paternal α-globin allele, we established a novel...
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