Polymorphic admixture typing in human ethnic populations.
Polymorphic admixture typing in human ethnic populations.
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DOI：
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发表时间：
1994-10
影响因子：
9.8
通讯作者：
M. Dean;J. Stephens;Christoph Winkler;D. Lomb;M. Ramsburg;R. Boaze;C. Stewart;L. Charbonneau;D. Goldman;B. Albaugh
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文献类型：
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作者：
M. Dean;J. Stephens;Christoph Winkler;D. Lomb;M. Ramsburg;R. Boaze;C. Stewart;L. Charbonneau;D. Goldman;B. Albaugh
一组257个RFLP位点的基础上选择的高杂合性在高加索人的DNA调查和整个人类基因组的相等间距。来自每个基因座的探针用于四个人类种族群体的等位基因频率分布的Southern印迹调查：高加索人、非裔美国人、亚洲人（中国人）和美洲印第安人（夏延人）。几乎所有的RFLP位点在每个组中都是多态性的，尽管具有广泛的不同等位基因频率（δ）。频率差的分布（delta值）用于三个目的：（1）估计遗传距离（2）用大量数据重新审视可归因于种族群体内的分化的人类遗传变异的比例，（3）利用混合连锁不平衡（MALD）技术，在最近的混合群体中鉴定δ值较高的基因座。尽管大多数标记在种族之间显示出显着的等位基因频率差异，但种族之间的总体遗传距离很小（0.066 - 0.098），并且这些人类样本中测量的总体分子遗传多样性中< 10%可归因于“种族”差异。组间成对比较的中位δ值在0.15和0.20之间，允许鉴定用于MALD疾病关联研究的高度信息化的RFLP位点。
A panel of 257 RFLP loci was selected on the basis of high heterozygosity in Caucasian DNA surveys and equivalent spacing throughout the human genome. Probes from each locus were used in a Southern blot survey of allele frequency distribution for four human ethnic groups: Caucasian, African American, Asian (Chinese), and American Indian (Cheyenne). Nearly all RFLP loci were polymorphic in each group, albeit with a broad range of differing allele frequencies (delta). The distribution of frequency differences (delta values) was used for three purposes: (1) to provide estimates for genetic distance (differentiation) among these ethnic groups, (2) to revisit with a large data set the proportion of human genetic variation attributable to differentiation within ethnic groups, and (3) to identify loci with high delta values between recently admixed populations of use in mapping by admixture linkage disequilibrium (MALD). Although most markers display significant allele frequency differences between ethnic groups, the overall genetic distances between ethnic groups were small (.066-.098), and < 10% of the measured overall molecular genetic diversity in these human samples can be attributed to "racial" differentiation. The median delta values for pairwise comparisons between groups fell between .15 and .20, permitting identification of highly informative RFLP loci for MALD disease association studies.