Lee S D, Lee J B
Department of Forensic Medicine, College of Medicine, Seoul National University, Korea.
J Korean Med Sci. 1996 Oct;11(5):386-9. doi: 10.3346/jkms.1996.11.5.386.
The allele frequency and mutation rate in a Short Tandem Repeat locus, Y27 were studied in 247 unrelated Korean males using polymerase chain reaction followed by high-resolution polyacrylamide gel electrophoresis, a procedure called the amplification fragment length polymorphism technique. Six alleles were noted ranging from 190 bp to 210 bp. They existed as discrete bands with 4 bp discrepancy. Among which DY3(198 bp), DY4(202 bp) were common with the frequencies of 0.408, 0.356 respectively. Other alleles, DY1(190 bp, frequency 0.020), DY2(194 bp, frequency 0.121), DY5(206 bp, frequency 0.089), DY6(210 bp, frequency 0.004) were relatively uncommon. In a 78 subject father-son study with parenthood confirmed through other genetic studies, no case of mutation was noted. As the allele number was not as large as 6 and two alleles were dominant, the discrimination power in routine individual identification was thought to be low. But in selective cases such as father-son determination or sex determination, this locus could be a valuable genetic marker and we thought these results to be common for the Korean population. These results were also compared with that of other race.
运用聚合酶链反应,随后进行高分辨率聚丙烯酰胺凝胶电泳(一种称为扩增片段长度多态性技术的方法),对247名无亲缘关系的韩国男性的短串联重复序列位点Y27的等位基因频率和突变率进行了研究。观察到六个等位基因,范围从190 bp到210 bp。它们以相差4 bp的离散条带形式存在。其中DY3(198 bp)、DY4(202 bp)较为常见,频率分别为0.408、0.356。其他等位基因,DY1(190 bp,频率0.020)、DY2(194 bp,频率0.121)、DY5(206 bp,频率0.089)、DY6(210 bp,频率0.004)相对不常见。在一项通过其他遗传学研究确认亲子关系的78对父子研究中,未发现突变情况。由于等位基因数量未多达6个且两个等位基因占主导,常规个体识别中的鉴别力被认为较低。但在父子关系判定或性别判定等特定情况下,该位点可能是一个有价值的遗传标记,并且我们认为这些结果在韩国人群中具有普遍性。这些结果也与其他种族的结果进行了比较。