Seroussi E
Agricultural Research Organization, Institute of Animal Science, Bet-Dagan 50250, Israel.
Anim Genet. 2009 Apr;40(2):230-4. doi: 10.1111/j.1365-2052.2008.01809.x. Epub 2008 Nov 11.
The lack of conventions for confirming the discovery of quantitative trait nucleotides in livestock was evidenced by the proposals of mutations in two different genes (SPP1 and ABCG2) as the underlying functional mutation for a major quantitative trait locus (QTL) for milk concentration on bovine chromosome 6 (BTA6). Of these conflicting candidates, SPP1 was excluded by follow-up studies and by the data described here. A simple test for concordance of the zygosity state between QTL segregation status and the candidate polymorphism was shown, in this case, to be a critical step towards establishing the proof. If a given sample effectively represents the genetic variation across the QTL region, haplotype-based concordance may further enhance the functionality and resolution power of this test, allowing identification of the causative gene.
在牛6号染色体(BTA6)上,关于牛奶浓度的一个主要数量性状位点(QTL),有两个不同基因(SPP1和ABCG2)中的突变被提议作为潜在的功能突变,这证明了在牲畜中确认数量性状核苷酸发现缺乏相关规范。在这些相互矛盾的候选基因中,后续研究及本文所述数据排除了SPP1。在这种情况下,对QTL分离状态和候选多态性之间的纯合状态一致性进行简单测试,被证明是建立证据的关键一步。如果给定样本有效地代表了QTL区域的遗传变异,基于单倍型的一致性可能会进一步增强该测试的功能和分辨率,从而识别出致病基因。