Weeks D E, Young A, Li C C
Department of Human Genetics, University of Pittsburgh, PA 15261, USA.
Proc Natl Acad Sci U S A. 1995 Dec 19;92(26):12031-5. doi: 10.1073/pnas.92.26.12031.
Li and Chakravarti [Li, C.C. & Chakravarti, A. (1994) Hum. Hered. 44, 100-109] compared the probability (MO) of a random match between the two DNA profiles of a pair of individuals drawn from a random-mating population to the probability (MF) of the match between a pair of random individuals drawn from a subdivided population. The level of heterogeneity in this subdivided population is measured by the parameter F, where there is no subdivision when F = 0 and increasing values of F indicate increasing subdivisions. Li and Chakravarti concluded that it is conservative to use the match probability MO, which is derived under the assumption that the two individuals are drawn from a homogeneous random-mating population without subdivision. However, MO may not be always greater than MF, even for biologically reasonable values of F. We explore here those mathematical conditions under which MO is less than MF, and we find that MO is not conservative mainly when there is an allele with a much higher frequency than all the other alleles. When empirical data for both variable number of tandem repeat (VNTR) and short tandem repeat (STR) systems are evaluated, we find that in the majority of cases MO represents a conservative probability of a match, and so the subdivision of human populations may usually be ignored for a random match, although not, of course, for relatives. Loci for which MO is not conservative should be avoided for forensic inference.
李和查克拉瓦蒂[Li, C.C. & Chakravarti, A. (1994) 《人类遗传学》44, 100 - 109]比较了从随机交配群体中抽取的一对个体的两个DNA图谱之间随机匹配的概率(MO)与从细分群体中抽取的一对随机个体之间匹配的概率(MF)。这个细分群体中的异质性水平由参数F衡量,当F = 0时不存在细分,F值增大表示细分程度增加。李和查克拉瓦蒂得出结论,使用在两个个体是从无细分的均匀随机交配群体的假设下推导出来的匹配概率MO是保守的。然而,即使对于生物学上合理的F值,MO也不一定总是大于MF。我们在此探讨MO小于MF的那些数学条件,并且发现MO不保守主要是当存在一个频率比所有其他等位基因都高得多的等位基因时。当对可变数目串联重复序列(VNTR)和短串联重复序列(STR)系统的经验数据进行评估时,我们发现大多数情况下MO代表匹配的保守概率,所以对于随机匹配,人类群体的细分通常可以忽略,当然亲属情况除外。对于法医推断,应避免使用MO不保守的基因座。