Devlin B, Risch N
Department of Epidemiology and Public Health, Yale University School of Medicine, New Haven, CT 06510.
Am J Hum Genet. 1992 Sep;51(3):549-53.
To fully utilize the information of VNTR data for forensic inference, the probability of observing the matching suspect and evidentiary profile in a reference population is estimated, usually by assuming independence of alleles within and between loci. This assumption has been challenged on the basis of the observation that there is frequently an excess of single-band phenotypes (SBP) in forensic data bases, which could indicate lack of independence. Nevertheless, another explanation is that the excess SBP are artifacts of laboratory methods. In this report we examine the excess of SBP for three VNTR loci studied by the FBI (D17S79 and D2S44, for blacks, and D14S13, for Caucasians). The FBI claims that the excess is due to the effect of null alleles; the null alleles are suspected to be too small to be detected. We estimate the frequency of null alleles for two loci (D17S79 and D14S13) by comparing, for these loci, the data from the FBI data base and the data from the Lifecodes data base. These comparisons yield information on small fragments because Lifecodes uses the restriction enzyme PstI, which yields larger fragments than does HaeIII, which the FBI uses. For D17S79 in blacks, we estimate a null allele frequency of 4.4%, and, for D14S13 in Caucasians, we estimate a frequency of 3.0%. The null-allele frequency for D2S44 in blacks is derived similarly, again being based on analyses of DNA cut with HaeIII and PstI; our estimate of the null-allele frequency for this locus is 1.5%.(ABSTRACT TRUNCATED AT 250 WORDS)
为了充分利用可变数目串联重复序列(VNTR)数据进行法医推断,通常通过假设基因座内部和之间的等位基因独立性,来估计在参考人群中观察到匹配的嫌疑人与证据图谱的概率。基于法医数据库中经常出现单带表型(SBP)过多的观察结果,这一假设受到了挑战,这可能表明缺乏独立性。然而,另一种解释是过多的SBP是实验室方法的人为产物。在本报告中,我们研究了联邦调查局(FBI)研究的三个VNTR基因座(黑人的D17S79和D2S44,白种人的D14S13)的SBP过多情况。FBI声称过多是由于无效等位基因的影响;怀疑无效等位基因太小而无法检测到。我们通过比较这两个基因座(D17S79和D14S13)在FBI数据库中的数据和Lifecodes数据库中的数据,来估计无效等位基因的频率。这些比较产生了关于小片段的信息,因为Lifecodes使用限制性内切酶PstI,它产生的片段比FBI使用的HaeIII产生的片段更大。对于黑人中的D17S79,我们估计无效等位基因频率为4.4%,对于白种人中的D14S13,我们估计频率为3.0%。黑人中D2S44的无效等位基因频率也是类似得出的,同样基于对用HaeIII和PstI切割的DNA的分析;我们对该基因座无效等位基因频率的估计为1.5%。(摘要截短为250字)