Waye J S, Richard M, Carmody G, Newall P J
Department of Pathology, McMaster University, Hamilton, Ontario, Canada.
Hum Mutat. 1994;3(3):248-53. doi: 10.1002/humu.1380030312.
D17S79 is one of several highly polymorphic VNTR loci commonly used to generate DNA profiles for forensic identity testing and parentage determination. In this study, we used Southern hybridization analysis of HaeIII-digested genomic DNA to compile D17S79 allele frequency databases for the Caucasian, Southeast Asian, East Indian, and Black populations of Southern Ontario. In our Black population sample, low-molecular-weight D17S79 alleles are relatively common and approximately 7% of the individuals have three-band hybridization patterns due to a HaeIII restriction site polymorphism within a common D17S79 allele. The internal HaeIII site generates an allele consisting of two HaeIII fragments of approximately 980 and 420 bp. The estimated frequency of this "split-allele" in our Black population is 0.035. Since this allele was not observed in the other population groups, the internal HaeIII polymorphism probably originated within the Black population. Although the existence of low-molecular-weight alleles and the internal HaeIII polymorphism could affect the interpretation of some VNTR patterns, they are of little or no forensic consequence to the frequencies assigned to VNTR profiles.
D17S79是常用于生成法医身份鉴定和亲子鉴定DNA图谱的几个高度多态性VNTR基因座之一。在本研究中，我们对经HaeIII消化的基因组DNA进行Southern杂交分析，以编制安大略省南部白种人、东南亚人、东印度人和黑人种群的D17S79等位基因频率数据库。在我们的黑人种群样本中，低分子量的D17S79等位基因相对常见，并且由于常见D17S79等位基因内的HaeIII限制性位点多态性，约7%的个体具有三带杂交模式。内部HaeIII位点产生一个由两个分别约为980和420 bp的HaeIII片段组成的等位基因。在我们的黑人种群中，这种“分裂等位基因”的估计频率为0.035。由于在其他种群组中未观察到该等位基因，内部HaeIII多态性可能起源于黑人种群。尽管低分子量等位基因的存在和内部HaeIII多态性可能会影响某些VNTR模式的解读，但它们对分配给VNTR图谱的频率几乎没有或没有法医鉴定方面的影响。
