Sajantila A, Budowle B, Ström M, Johnsson V, Lukka M, Peltonen L, Ehnholm C
Laboratory of Molecular Genetics, National Public Health Institute, Helsinki, Finland.
Am J Hum Genet. 1992 Apr;50(4):816-25.
Allele and genotype frequencies for the highly polymorphic D1S80 locus were determined in a Finnish population sample by using PCR followed by high-resolution PAGE and silver staining, a procedure called the amplified-fragment-length polymorphism (Amp-FLP) technique. In 140 unrelated Finnish individuals 15 alleles and 43 phenotypes were observed. The D1S80 locus demonstrated a heterozygosity of .77, and the power of discrimination was .92 in this sample representing a genetically isolated Finnish population. The distribution of observed genotypes conformed to Hardy-Weinberg expectations. In 36 mother-child pairs Mendelian inheritance for the alleles at the D1S80 locus could be demonstrated in all cases, and no mutations were observed. The usefulness of the D1S80 locus for forensic casework was assessed by using Amp-FLP analysis of the D1S80 locus in 36 forensic cases including 18 rapes, 14 homicides, and 4 other violent crimes. In most cases valuable information was obtained using the Amp-FLP technique, and in no case was there indication of either false-positive or false-negative results.
采用聚合酶链反应(PCR),随后进行高分辨率聚丙烯酰胺凝胶电泳(PAGE)和银染法,即所谓的扩增片段长度多态性(Amp-FLP)技术,测定了芬兰人群样本中高度多态性D1S80位点的等位基因和基因型频率。在140名无亲缘关系的芬兰个体中,观察到15个等位基因和43种表型。在这个代表遗传隔离的芬兰人群的样本中,D1S80位点的杂合度为0.77,鉴别能力为0.92。观察到的基因型分布符合哈迪-温伯格预期。在36对母婴中,所有情况下都能证明D1S80位点的等位基因符合孟德尔遗传,且未观察到突变。通过对36起法医案件(包括18起强奸案、14起杀人案和4起其他暴力犯罪)中的D1S80位点进行Amp-FLP分析,评估了D1S80位点在法医案件工作中的实用性。在大多数情况下,使用Amp-FLP技术获得了有价值的信息,且在任何情况下都没有出现假阳性或假阴性结果的迹象。