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西班牙人群中微卫星标记D1S117、D6S89、D11S35、载脂蛋白C2(APOC2)和D21S168的基因变异

Genetic variation of microsatellite markers D1S117, D6S89, D11S35, APOC2, and D21S168 in the Spanish population.

作者信息

Fuentes J J, Banchs I, Volpini V, Estivill X

机构信息

Molecular Genetics Department, I.R.O., Hospital Duran i Reynals, Barcelona, Catalunya, Spain.

出版信息

Int J Legal Med. 1993;105(5):271-7. doi: 10.1007/BF01370384.

Abstract

We have used PCR amplification to analyse the allele frequency, distribution and heterozygosity of 5 microsatellite markers (D1S117, D6S89, D11S35, APOC2, and D21S168), in a sample of 100 unrelated Spanish individuals. The loci tested exhibit wide allelic variability having 7-17 alleles, PIC (polymorphic information content) between 0.79 and 0.86, and heterozygosity between 0.81 and 0.86. D1S117 and D21S168 have unimodal distribution, APOC2 has 4 common alleles which account for 71% of the total variation, D11S35 has a bimodal distribution and D6S89 is trimodal. The allelic distribution observed for each locus is in agreement with slippage and mispairing as the main mechanisms involved in the evolution of microsatellite alleles. Multiplex amplification of loci D6S89 and APOC2 was possible due to their non-overlapping allele sizes. The rapidity with which microsatellites can be analysed, and the accurate determination of alleles, make these markers very powerful tools for genetic typing. The information obtained for loci D1S117, D6S89, D11S35, APOC2, and D21S168, provides a basis for their use for DNA typing and paternity analysis in the Spanish population.

摘要

我们运用聚合酶链反应(PCR)扩增技术,对100名无亲缘关系的西班牙个体样本中的5个微卫星标记(D1S117、D6S89、D11S35、APOC2和D21S168)的等位基因频率、分布及杂合性进行了分析。所检测的位点呈现出广泛的等位基因变异性,有7 - 17个等位基因,多态信息含量(PIC)在0.79至0.86之间,杂合性在0.81至0.86之间。D1S117和D21S168具有单峰分布,APOC2有4个常见等位基因,占总变异的71%,D11S35具有双峰分布,D6S89具有三峰分布。观察到的每个位点的等位基因分布与滑动和错配一致,这是微卫星等位基因进化过程中的主要机制。由于D6S89和APOC2位点的等位基因大小不重叠,因此可以进行多重扩增。微卫星分析的快速性以及等位基因的准确测定,使这些标记成为基因分型的强大工具。从D1S117、D6S89、D11S35、APOC2和D21S168位点获得的信息,为它们在西班牙人群中用于DNA分型和亲子鉴定分析提供了依据。

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