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小卫星MS205(D16S309)的等位基因多样性:极化变异性的证据。

Allelic diversity at minisatellite MS205 (D16S309): evidence for polarized variability.

作者信息

Armour J A, Harris P C, Jeffreys A J

机构信息

Department of Genetics, University of Leicester, UK.

出版信息

Hum Mol Genet. 1993 Aug;2(8):1137-45. doi: 10.1093/hmg/2.8.1137.

Abstract

We have determined the allelic structures on 106 Caucasian chromosomes at the minisatellite locus MS205 (D16S309). In addition to the internal structures deduced by minisatellite variant repeat (MVR) mapping, the genotypes at six flanking substitutional polymorphic sites have been analysed. The minisatellite structures show a polarity of variation at MS205, with most observed variation due to differences at one extremity of the tandem repeat array. This locus, therefore, provides a further example of polarity of variation at human minisatellites. Analysis of haplotypes at flanking polymorphic sites suggests that there may be a higher frequency of exchange near the highly unstable end of the minisatellite, and thus that exchanges of flanking polymorphisms may be due to co-conversion or recombination events occurring during unequal exchanges between minisatellite alleles.

摘要

我们已经确定了106条高加索人染色体在小卫星位点MS205(D16S309)上的等位基因结构。除了通过小卫星变异重复(MVR)图谱推断出的内部结构外,还分析了六个侧翼替代多态性位点的基因型。小卫星结构在MS205处显示出变异的极性,观察到的大多数变异是由于串联重复阵列一端的差异所致。因此,该位点为人类小卫星变异极性提供了另一个例子。对侧翼多态性位点单倍型的分析表明,在小卫星高度不稳定的末端附近可能存在更高频率的交换,因此侧翼多态性的交换可能是由于小卫星等位基因之间不等交换过程中发生的共转换或重组事件。

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