期刊
PLOS ONE
卷 4, 期 9, 页码 -出版社
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pone.0006915
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资金
- NCRR NIH HHS [5MO1 RR00722, M01 RR000722] Funding Source: Medline
- NIAID NIH HHS [P30 AI027757, U01 AI035042, UO1 AI37613, R37 AI47734, U01 AI035043, UO1 AI37984, U01 AI035041, R37 AI047734, UO1 AI35041, U01 AI037613, P30AI27757, U01 AI037984, T32 AI07140, UO1 AI35042, T32 AI007140, U01 AI035040, U01 AI035039, UO1 AI35040, UO1 AI35043, UO1 AI35039] Funding Source: Medline
Background: As availability of primary cells can be limited for genetic studies of human disease, lymphoblastoid cell lines (LCL) are common sources of genomic DNA. LCL are created in a transformation process that entails in vitro infection of human B-lymphocytes with the Epstein-Barr Virus (EBV). Methodology/Principal Findings: To test for genotypic errors potentially induced by the Epstein-Barr Virus transformation process, we compared single nucleotide polymorphism (SNP) genotype calls in peripheral blood mononuclear cells (PBMC) and LCL from the same individuals. The average mismatch rate across 19 comparisons was 0.12% for SNPs with a population call rate of at least 95%, and 0.03% at SNPs with a call rate of at least 99%. Mismatch rates were not correlated across genotype subarrays run on all sample pairs. Conclusions/Significance: Genotypic discrepancies found in PBMC and LCL pairs were not significantly different than control pairs, and were not correlated across subarrays. These results suggest that mismatch rates are minimal with stringent quality control, and that most genotypic discrepancies are due to technical artifacts rather than the EBV transformation process. Thus, LCL likely constitute a reliable DNA source for host genotype analysis.
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