Correlation analyses reveal a substantial influence of allelic gaps on the investigation of genetic diversity of modern human populations with microsatellites.
Correlation analyses reveal a substantial influence of allelic gaps on the investigation of genetic diversity of modern human populations with microsatellites.
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相关分析揭示了等位基因缺口对利用微卫星研究现代人类群体遗传多样性的重大影响。
DOI：
10.1111/j.1469-1809.2008.00445.x
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发表时间：
2008
影响因子：
1.9
通讯作者：
Chakraborty,R
中科院分区：
文献类型：
--
作者：
Guha,S;Chakraborty,R
高种群内遗传多样性和STR位点的多种遗传变异测量有助于推断过去的进化史。然而，根据重复基序大小分类的str在许多方面有所不同，需要单独分析。我们分析了全球36个人群中的783个str，以检查标记适用性以及各种测量值之间的相关性，以评估现代人类群体中存在的基因组多样性程度。将基因座按类型分组，并对每个群体进行单独分析。由基因多样性和等位基因大小方差定义的遗传变异在4种类型str中表现出不同的变异趋势。此外，遗传多样性变化不大，但等位基因大小差异随着重复基序的增加而减小。在所有Di - STRs群体中，基因多样性与等位基因大小差异之间的相关性较差，这可能是由于等位基因大小差距的存在造成的。相比之下，等位基因大小差异、遗传多样性和等位基因数量与三、四逆转录酶密切相关。等位基因大小变异的正相关和等位基因大小范围内存在的差距解释了这些观察结果。由于高等位基因大小差异，Di‐STRs的高不平衡指数（β）也支持了这一断言。
High intra‐population genetic diversity and multiple measures of genetic variability at STR loci are useful in inferring past evolutionary history. However, STRs, categorized by their repeat motif size, differ in a number of aspects, requiring separate analyses. We analyzed 783 STRs in 36 worldwide populations to examine marker suitability as well as correlations between various measurements, to evaluate the extent of genomic diversity present in modern human populations. The loci were grouped by type and analyzed separately for each population group. Genetic variation defined by gene diversity and allele size variance, shows different trends of variation across four types of STRs. Additionally, there is little variation of genetic diversity, but there is decreased allelic size variance with increasing repeat motifs. A poor correlation between genetic diversity and allelic size variance across loci in all groups for Di‐STRs is probably caused by the presence of allelic size gaps. In contrast, allelic size variance, genetic diversity, and number of alleles are strongly correlated with both tri‐ and tetra‐STRs. The positive correlation of allelic size variance and presence of gaps within the range of allelic sizes in Di‐STRs alone explains these observations. An unexpected high imbalance index (β) at Di‐STRs due to high allelic size variance also supports this assertion.