Effects of ascertainment bias on recovering human demographic history

被引:11
作者
Eller, E [1 ]
机构
[1] Univ Utah, Dept Anthropol, Salt Lake City, UT 84112 USA
关键词
restriction site polymorphisms (RSPS); restriction fragment length polymorphisms (RFLPS) single nucleotide polymorphisms (SNPS); relative population weights;
D O I
10.1353/hub.2001.0034
中图分类号
Q98 [人类学];
学科分类号
030303 ;
摘要
In recent years multilocus data sets have been used to study the demographic history of human populations, in this paper (1) analyses previously done on 60 short tandem repeat (STR) loci are repeated on 30 restriction site polymorphism (RSP) markers: (2) relative population weights are estimated from the RSP data set and compared to previously published estimates from STR and craniometric data sets; and (3) computer simulations are performed to show the effects of ascertainment bias on relative population weight estimates. Not surprisingly, given that the RSP markers were originally identified in a small panel of Caucasians, estimates of relative population weights are biased and the European population weight is artificially inflated. However, the effects of ascertainment bias are not apparent in a principal components plot or estimates of F-ST. Ascertainment bias can have a large effect in other genetic systems with inherently low heterozygosity such as Alus or single nucleotide polymorphisms (SNPs), and care must be taken to have prior knowledge of how polymorphic markers in a given data set were originally identified. Otherwise, results can be skewed and interpretations faulty.
引用
收藏
页码:411 / 427
页数:17
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