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关于运用美国联邦调查局固定区间法对可变数目串联重复序列(VNTR)数据进行哈迪-温伯格平衡分析的一则注释

A note on Hardy-Weinberg equilibrium of VNTR data by using the Federal Bureau of Investigation's fixed-bin method.

作者信息

Devlin B, Risch N

机构信息

Department of Epidemiology and Public Health, Yale University School of Medicine, New Haven, CT 06510.

出版信息

Am J Hum Genet. 1992 Sep;51(3):549-53.

PMID:1496986
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1682714/
Abstract

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)

摘要

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)

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引用本文的文献

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Short alleles revealed by PCR demonstrate no heterozygote deficiency at minisatellite loci D1S7, D7S21, and D12S11.通过聚合酶链反应(PCR)揭示的短等位基因在小卫星位点D1S7、D7S21和D12S11处未显示杂合子缺陷。
Am J Hum Genet. 1997 Feb;60(2):417-25.
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On the use of excess homozygosity for subpopulation detection.关于利用过度纯合性进行亚群检测
Am J Hum Genet. 1993 Jun;52(6):1275-7.
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Genetic structure of forensic populations.法医群体的遗传结构。
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Nondetectability of restriction fragments and independence of DNA fragment sizes within and between loci in RFLP typing of DNA.DNA的限制性片段长度多态性(RFLP)分型中,限制性片段的不可检测性以及基因座内部和之间DNA片段大小的独立性。
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Paternity evaluation in cases lacking a mother and nondetectable alleles.
Int J Legal Med. 1994;107(3):127-31. doi: 10.1007/BF01225599.
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Correlation of DNA fragment sizes within loci in the presence of non-detectable alleles.在存在不可检测等位基因的情况下,基因座内DNA片段大小的相关性。
Genetica. 1995;96(1-2):27-36. doi: 10.1007/BF01441149.
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The effects of inbreeding on DNA profile frequency estimates using PCR-based loci.近亲繁殖对使用基于聚合酶链反应(PCR)的基因座估计DNA图谱频率的影响。
Genetica. 1995;96(1-2):21-5. doi: 10.1007/BF01441148.
8
Ethnic differentiation at VNTR loci, with special reference to forensic applications.可变数目串联重复序列(VNTR)位点的种族分化,特别涉及法医应用。
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Population genetics in the forensic DNA debate.法医DNA辩论中的群体遗传学
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本文引用的文献

1
Forensic DNA tests and hardy-weinberg equilibrium.法医DNA检测与哈迪-温伯格平衡
Science. 1991 Aug 30;253(5023):1038-9. doi: 10.1126/science.253.5023.1038.
2
Statistical data analysis in the computer age.计算机时代的统计数据分析。
Science. 1991 Jul 26;253(5018):390-5. doi: 10.1126/science.253.5018.390.
3
DNA fingerprinting on trial.受审的DNA指纹识别技术
Nature. 1989 Jun 15;339(6225):501-5. doi: 10.1038/339501a0.
4
Human population genetic studies of five hypervariable DNA loci.五个高变DNA位点的人类群体遗传学研究。
Am J Hum Genet. 1989 Feb;44(2):182-90.
5
DNA fingerprinting for forensic identification: potential effects on data interpretation of subpopulation heterogeneity and band number variability.用于法医鉴定的DNA指纹识别:亚群体异质性和条带数量变异性对数据解读的潜在影响。
Am J Hum Genet. 1990 Feb;46(2):358-68.
6
No excess of homozygosity at loci used for DNA fingerprinting.用于DNA指纹识别的位点不存在纯合性过剩。
Science. 1990 Sep 21;249(4975):1416-20. doi: 10.1126/science.2205919.
7
Heterozygote deficiency, population substructure and their implications in DNA fingerprinting.
Hum Genet. 1992 Jan;88(3):267-72. doi: 10.1007/BF00197257.
8
Fixed-bin analysis for statistical evaluation of continuous distributions of allelic data from VNTR loci, for use in forensic comparisons.用于VNTR基因座等位基因数据连续分布统计评估的固定区间分析,用于法医比对。
Am J Hum Genet. 1991 May;48(5):841-55.
9
Ethnic differentiation at VNTR loci, with special reference to forensic applications.可变数目串联重复序列(VNTR)位点的种族分化,特别涉及法医应用。
Am J Hum Genet. 1992 Sep;51(3):534-48.
10
Independence of VNTR alleles defined as fixed bins.定义为固定区间的可变数目串联重复序列(VNTR)等位基因的独立性。
Genetics. 1992 Apr;130(4):873-87. doi: 10.1093/genetics/130.4.873.