Allele non-amplification: a source of confusion in linkage studies employing microsatellite polymorphisms.
Allele non-amplification: a source of confusion in linkage studies employing microsatellite polymorphisms.
复制标题
等位基因非扩增：使用微卫星多态性的连锁研究中的混乱根源。
DOI：
10.1093/hmg/2.3.289
复制
发表时间：
1993
影响因子：
3.5
通讯作者：
Geoffrey W. McCaughan
中科院分区：
文献类型：
--
作者：
D. Koorey;G.Alexander Bishop;Geoffrey W. McCaughan
微卫星多态性为人类连锁研究提供了信息丰富且易于检测的标记。本文报告了由于等位基因非扩增导致的二核苷酸重复多态性的明显非孟德尔遗传。当使用新的 CA 链引物进行扩增时，先前隐藏的等位基因被揭示，孟德尔遗传得以恢复。隐藏等位基因的测序鉴定出原始 CA 链引物结合位点最 3' 位置处的单碱基替换。等位基因非扩增是利用聚合酶链式反应检测多态性的连锁研究中潜在的混乱来源。每当遇到明显的非孟德尔遗传或非父子关系时，都应该考虑这一点。
Microsatellite polymorphisms provide highly informative readily detectable markers for human linkage studies. This paper reports apparent non-Mendelian inheritance of a dinucleotide repeat polymorphism due to allele non-amplification. The previously hidden allele was revealed and Mendelian inheritance restored when a new CA strand primer was used for amplification. Sequencing of the hidden allele identified a single base substitution at the 3'-most position of the binding site for the original CA strand primer. Allele non-amplification is a potential source of confusion in linkage studies employing polymorphisms detected by the polymerase chain reaction. It should be considered whenever apparent non-Mendelian inheritance or non-paternity are encountered.