A false single nucleotide polymorphism generated by gene duplication compromises meat traceability

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• 作者：Arianne Sanz^a ; ^{arianne@unizar.es} ; Laura Ordová ; s^a ; Pilar Zaragoza^a ; Albina Sanz^b ; Ignacio de Blas^c ; Clementina Rodellar^a
• 关键词：SNP ; Meat traceability ; Genetic identification ; False SNP ; Duplication gene ; Excess of heterozygote
• 刊名：Meat Science
• 出版年：2012
• 期刊代码：78_03091740
• 类别：abs
• 出版时间：July, 2012
• 卷：91
• 期：3
• 页码：347-351
• 文件大小：789 K

摘要

Controlling meat traceability using SNPs is an effective method of ensuring food safety. We have analyzed several SNPs to create a panel for bovine genetic identification and traceability studies. One of these was the transversion g.329C > T (Genbank accession no. ) on the cytochrome P450 17A1 gene, which has been included in previously published panels. Using minisequencing reactions, we have tested 701 samples belonging to eight Spanish cattle breeds. Surprisingly, an excess of heterozygotes was detected, implying an extreme departure from Hardy-Weinberg equilibrium (P < 0.001). By alignment analysis and sequencing, we detected that the g.329C > T SNP is a false positive polymorphism, which allows us to explain the inflated heterozygotic value. We recommend that this ambiguous SNP, as well as other polymorphisms located in this region, should not be used in identification, traceability or disease association studies. Annotation of these false SNPs should improve association studies and avoid misinterpretations.