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从基因座杂合性推断个体对之间的关系。

Inferring relationships between pairs of individuals from locus heterozygosities.

作者信息

Presciuttini Silvano, Toni Chiara, Tempestini Elena, Verdiani Simonetta, Casarino Lucia, Spinetti Isabella, De Stefano Francesco, Domenici Ranieri, Bailey-Wilson Joan E

机构信息

Dipartimento di Biomedicina, University of Pisa, Pisa, Italy.

出版信息

BMC Genet. 2002 Nov 20;3:23. doi: 10.1186/1471-2156-3-23.

Abstract

BACKGROUND

The traditional exact method for inferring relationships between individuals from genetic data is not easily applicable in all situations that may be encountered in several fields of applied genetics. This study describes an approach that gives affordable results and is easily applicable; it is based on the probabilities that two individuals share 0, 1 or both alleles at a locus identical by state.

RESULTS

We show that these probabilities (zi) depend on locus heterozygosity (H), and are scarcely affected by variation of the distribution of allele frequencies. This allows us to obtain empirical curves relating zi's to H for a series of common relationships, so that the likelihood ratio of a pair of relationships between any two individuals, given their genotypes at a locus, is a function of a single parameter, H. Application to large samples of mother-child and full-sib pairs shows that the statistical power of this method to infer the correct relationship is not much lower than the exact method. Analysis of a large database of STR data proves that locus heterozygosity does not vary significantly among Caucasian populations, apart from special cases, so that the likelihood ratio of the more common relationships between pairs of individuals may be obtained by looking at tabulated zi values.

CONCLUSIONS

A simple method is provided, which may be used by any scientist with the help of a calculator or a spreadsheet to compute the likelihood ratios of common alternative relationships between pairs of individuals.

摘要

背景

从遗传数据推断个体间关系的传统精确方法,在应用遗传学的多个领域可能遇到的所有情况下都不易适用。本研究描述了一种成本低廉且易于应用的方法;它基于两个个体在一个位点上以相同状态共享0个、1个或两个等位基因的概率。

结果

我们表明这些概率(zi)取决于位点杂合性(H),并且几乎不受等位基因频率分布变化的影响。这使我们能够获得一系列常见关系中zi与H的经验曲线,这样给定任意两个个体在一个位点的基因型,它们之间一对关系的似然比就是单个参数H的函数。对大量母婴和全同胞对样本的应用表明,该方法推断正确关系的统计效力并不比精确方法低太多。对一个大型STR数据库的分析证明,除特殊情况外,位点杂合性在高加索人群中没有显著差异,因此通过查看表格化的zi值可以获得个体对之间更常见关系的似然比。

结论

提供了一种简单的方法,任何科学家借助计算器或电子表格都可使用该方法来计算个体对之间常见替代关系的似然比。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d753/138805/ac55f59e4a42/1471-2156-3-23-1.jpg

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