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US forensic Y-chromosome short tandem repeats database.

机译:美国法医Y染色体短串联重复序列数据库。

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摘要

A forensic Y-STR database generated in the US was compiled with profiles containing a portion or complete typing of 16 STR markers DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS456, DYS458, DYS635, DYS448, and Y GATA H4. There were 17,447 samples in the version of database in which 77% and 20% were collected in North America and Asia, respectively. The database was separated into six general populations, African American, Asian, Caucasian, Hispanic, Indian, and Native American. Each population was further classified into subgroups according to geographic regions. Some subgroups were tested, found to be homogenous and merged together. Allele and haplotype frequencies, as well as sample sizes were summarized. Of the full haplotypes (i.e., 16 STRs without missing data), 93.7% in total population were distinct, 92.9% were population specific, and 89.3% were only observed once. The majority of shared haplotypes were found among North American populations as a result of admixture lasting the past few hundred years. The power of discrimination (PD), coancestry coefficient (F(st)), and coefficient of gene differentiation (G(st)) at locus and haplotype levels were also calculated. The most polymorphic marker was DYS385; this marker contains a tandem duplication and actually is composed of two loci. Both G(st) and F(st) estimates were very small with haplotypes composed of a high number of STRs haplotypes (e.g., 10-16 markers), although G(st) is slightly more conservative for these extended haplotypes. With Native American removed from the total population data set, the G(st) and F(st) estimates reduce further. PD was 0.9998 for the total population dataset for all 16 Y-STR markers. Three measures of Y-STR profile frequency were calculated: (1) unconditional haplotype frequency, (2) population substructure adjusted frequency, and (3) binomial upper bound of the haplotype frequency. The binomial upper bound is the most conservative estimate for most forensic applications. Estimates of the weight of a Y-STR haplotype can be estimated using population specific or total population databases.
机译:使用在美国生成的法医Y-STR数据库,使用包含16个STR标记DYS19,DYS385,DYS389I,DYS389II,DYS390,DYS391,DYS392,DYS393,DYS437,DYS438,DYS439,DYS456,DYS458, DYS635,DYS448和Y GATA H4。数据库版本中有17447个样本,其中分别在北美和亚洲收集了77%和20%。该数据库分为六个总体,即非裔美国人,亚裔,高加索人,西班牙裔,印度裔和美洲原住民。根据地理区域,将每个人口进一步分为亚组。对一些亚组进行了测试,发现它们是同质的,并融合在一起。总结了等位基因和单倍型频率以及样本量。在全部单倍型(即没有缺失数据的16个STR)中,有93.7%的总人口与众不同,有92.9%是特定于人口的,只有89.3%仅观察到一次。在过去的几百年中,由于混合,大多数共享单倍型在北美人群中被发现。还计算了位点和单倍型水平的鉴别力(PD),同余系数(F(st))和基因分化系数(G(st))。最多态的标记是DYS385。该标记包含一个串联重复序列,实际上由两个基因座组成。对于由大量STRs单倍型(例如10-16个标记)组成的单倍型,G(st)和F(st)的估计值都非常小,尽管对于这些扩展单倍型而言G(st)稍微保守一些。从总人口数据集中删除美国原住民后,G(st)和F(st)估计值进一步降低。所有16个Y-STR标记的总人口数据集的PD为0.9998。计算了Y-STR轮廓频率的三个量度:(1)无条件单倍型频率,(2)人口子结构调整频率,和(3)单倍型频率的二项式上限。对于大多数法证应用,二项式上限是最保守的估计。可以使用特定于人群或总体人群数据库估算Y-STR单倍型的重量。

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