Genotyping of Single Nucleotide Polymorphisms in DNA Isolated from Serum Using Sequenom MassARRAY Technology

作者: Tess V. Clendenen , Justin Rendleman , Wenzhen Ge , Karen L. Koenig , Isaac Wirgin

DOI: 10.1371/JOURNAL.PONE.0135943

关键词:

摘要: Background Large epidemiologic studies have the potential to make valuable contributions assessment of gene-environment interactions because they prospectively collected detailed exposure data. Some these studies, however, only serum or plasma samples as a low quantity source DNA. Methods We examined whether DNA isolated from can be used reliably and accurately genotype single nucleotide polymorphisms (SNPs) using Sequenom multiplex SNP genotyping technology. We genotyped 81 SNPs 158 participants in NYU Women’s Health Study. Each participant had at least one paired sample high quality DNA, i.e. clots and/or cell precipitates, for comparison. Results observed that 60 (74%) call frequencies (≥95%) serum, slightly lower than 85% with precipitates. Of 57 clot, precipitate 54 (95%) highly concordant (>98%) calls across all three types. High purity was not critical factor successful genotyping. Conclusions Our results suggest this method on large-scale studies.

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