样本大小对限制性片段长度多态性分析中DNA谱频率估计的影响。

The effect of sample size on the estimation of the frequency of DNA-profiles in RFLP-analysis.

作者信息

Eriksen B, Svensmark O

机构信息

Institute of Forensic Genetics, University of Copenhagen, Denmark.

出版信息

Forensic Sci Int. 1994 May 13;65(3):195-205. doi: 10.1016/0379-0738(94)90275-5.

DOI:10.1016/0379-0738(94)90275-5

PMID:7913690

Abstract

Restriction fragment length polymorphism analysis (RFLP-analysis) was carried out on blood samples from 616 unrelated Danish Caucasians. DNA was restricted with Hinf I and analyzed with the single locus variable number tandem repeats (VNTR) probes MS1, MS31, MS43a and YNH24. The effect of the sample size on the estimates of the frequencies of DNA-profiles was investigated using reference samples of 50-1200 bands for each probe. The effects of using the upper confidence limit and a minimum default allele frequency in the calculation of the frequency of the DNA-profile were investigated. It is concluded that very small samples, e.g. 50 individuals, may be used as reference samples in the estimation of the frequency of a DNA-profile. The use of an upper confidence limit was without significant effect, whereas the use of a minimum default allele frequency prevented large underestimates.

摘要

对616名无亲缘关系的丹麦白种人的血样进行了限制性片段长度多态性分析（RFLP分析）。用Hinf I对DNA进行酶切，并用单基因座可变数目串联重复序列（VNTR）探针MS1、MS31、MS43a和YNH24进行分析。使用每个探针50 - 1200条带的参考样本，研究了样本量对DNA图谱频率估计的影响。研究了在计算DNA图谱频率时使用置信上限和最小默认等位基因频率的影响。得出的结论是，非常小的样本，例如50个人，可作为估计DNA图谱频率的参考样本。使用置信上限没有显著影响，而使用最小默认等位基因频率可防止出现大幅低估的情况。