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DNA混合物:具有单倍型遗传标记的混合污渍的生物统计学

DNA mixtures: biostatistics for mixed stains with haplotypic genetic markers.

作者信息

Fukshansky N, Bär W

机构信息

Birkenstrasse 4B, 79256 Buchenbach, Germany.

出版信息

Int J Legal Med. 2005 Sep;119(5):285-90. doi: 10.1007/s00414-004-0497-5. Epub 2005 Feb 17.

DOI:10.1007/s00414-004-0497-5
PMID:15717201
Abstract

The conventional theory for interpreting forensic DNA evidence developed for the autosomal genetic markers is not applicable in the case of haplotypic markers, specifically for Y-STR based data. The reason is, that in contrast to the case of autosomal markers, single alleles found in the mixed stain cannot be assigned to unknown stain contributors independently of each other, while the assignable entities are sets of linked alleles which should be treated as non-separable units. It is shown that the conventional theory cannot be extended to this situation. A novel theory which accounts for the features of haplotypic markers has been developed within the general framework of the hypotheses testing approach. This theory opens the way for the use of haplotypic markers in the analysis of mixed stains with the arbitrary numbers of unknown contributors and linked loci. A numerical example demonstrates the application of the theory.

摘要

为常染色体遗传标记开发的用于解释法医DNA证据的传统理论不适用于单倍型标记的情况,特别是基于Y-STR的数据。原因是,与常染色体标记的情况不同,在混合样本中发现的单个等位基因不能相互独立地分配给未知样本贡献者,而可分配的实体是连锁等位基因的集合,应将其视为不可分割的单位。结果表明,传统理论不能扩展到这种情况。在假设检验方法的一般框架内,已经开发出一种考虑单倍型标记特征的新理论。该理论为在具有任意数量未知贡献者和连锁位点的混合样本分析中使用单倍型标记开辟了道路。一个数值例子展示了该理论的应用。

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本文引用的文献

1
Spanish population data and forensic usefulness of a novel Y-STR set (DYS437, DYS438, DYS439, DYS460, DYS461, GATA A10, GATA C4, GATA H4).西班牙人口数据及一组新型Y染色体短串联重复序列(DYS437、DYS438、DYS439、DYS460、DYS461、GATA A10、GATA C4、GATA H4)的法医学应用价值
Int J Legal Med. 2003 Oct;117(5):306-11. doi: 10.1007/s00414-003-0393-4. Epub 2003 Aug 2.
2
Grouping of Y-STR haplotypes discloses European geographic clines.Y染色体短串联重复序列(Y-STR)单倍型分组揭示了欧洲的地理渐变群。
Forensic Sci Int. 2003 Jul 8;134(2-3):172-9. doi: 10.1016/s0379-0738(03)00160-9.
3
DXYS156: a multi-purpose short tandem repeat locus for determination of sex, paternal and maternal geographic origins and DNA fingerprinting.
DXYS156:用于确定性别、父母地理来源及DNA指纹识别的多功能短串联重复序列位点
Int J Legal Med. 2002 Jun;116(3):133-8. doi: 10.1007/s00414-001-0272-9.
4
Online Y-chromosomal short tandem repeat haplotype reference database (YHRD) for U.S. populations.美国人群的在线Y染色体短串联重复单倍型参考数据库(YHRD)。
J Forensic Sci. 2002 May;47(3):513-9.
5
DNA commission of the International Society of Forensic Genetics: recommendations on forensic analysis using Y-chromosome STRs.国际法医遗传学学会DNA委员会:关于使用Y染色体短串联重复序列进行法医分析的建议
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Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes.欧洲Y染色体短串联重复序列(STR)单倍型在线参考数据库。
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Biostatistics for mixed stains: the case of tested relatives of a non-tested suspect.
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Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language.欧洲Y染色体的多样性呈渐变群分布,主要受地理因素影响,而非语言因素。
Am J Hum Genet. 2000 Dec;67(6):1526-43. doi: 10.1086/316890. Epub 2000 Nov 9.
10
A new method for the evaluation of matches in non-recombining genomes: application to Y-chromosomal short tandem repeat (STR) haplotypes in European males.一种评估非重组基因组中匹配情况的新方法:应用于欧洲男性的Y染色体短串联重复序列(STR)单倍型
Forensic Sci Int. 2000 Oct 9;114(1):31-43. doi: 10.1016/s0379-0738(00)00287-5.