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巴西人群中Y染色体短串联重复序列单倍型多样性

Y-chromosome STR haplotype diversity in Brazilian populations.

作者信息

Grattapaglia Dario, Kalupniek Sergei, Guimarães Claudia S, Ribeiro Mônica A, Diener Polyanna S, Soares Camila N

机构信息

Heréditas Tecnologia em Análise de DNA Ltda., SHIN CA 02, Lote 19, Brasilia, DF 71505-000, Brazil.

出版信息

Forensic Sci Int. 2005 Apr 20;149(1):99-107. doi: 10.1016/j.forsciint.2004.06.003.

Abstract

A sample of 198 unrelated males distributed among the five geopolitical regions in Brazil were typed for the minimal Y-STR haplotype composed of microsatellite loci DYS19, DYS385I/II, DYS389I, DYS389II, DYS390, DYS391, DYS392 and DYS393. Gene frequency data, gene diversity, haplotype diversity and power of discrimination were estimated. An AMOVA indicated that 99.97% of the haplotypic variation is found within regions and only a small 0.03% and non significant variation is found among the five regions (Fst=0.00031, P-value=0.43). This result suggests that a single national database of Y-STR haplotypes can be used in the quantitative assessment of matches in forensic casework in the Brazilian population. A significant haplotype diversity of 99.8% was found and 172 different haplotypes were observed in 198 chromosomes. Haplotype (14-11, 14-13-29-24-11-13-13) with five occurrences in 198 chromosomes was the most frequent in Brazil.

摘要

对分布在巴西五个地理政治区域的198名无亲缘关系男性样本进行了由微卫星基因座DYS19、DYS385I/II、DYS389I、DYS389II、DYS390、DYS391、DYS392和DYS393组成的最小Y-STR单倍型分型。估计了基因频率数据、基因多样性、单倍型多样性和鉴别力。方差分析表明,99.97%的单倍型变异存在于区域内,五个区域之间仅存在0.03%的微小且无显著差异的变异(Fst = 0.00031,P值 = 0.43)。这一结果表明,单一的全国Y-STR单倍型数据库可用于巴西人群法医案件工作中匹配度的定量评估。发现单倍型多样性显著,为99.8%,在198条染色体中观察到172种不同的单倍型。单倍型(14 - 11, 14 - 13 - 29 - 24 - 11 - 13 - 13)在198条染色体中出现了5次,是巴西最常见的单倍型。

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