Pfitzinger H, Ludes B, Kintz P, Tracqui A, Mangin P
Institut de Médecine Légale, Faculté de Médecine, Strasbourg, France.
J Forensic Sci. 1995 Mar;40(2):270-4.
The recent technology of amplification of DNA sequences by the polymerase chain reaction (PCR) has already proved to be a very useful tool for the analysis of variable number of tandem repeat (VNTR) loci. Short tandem repeat (STR) loci appear as other promising PCR-based identification systems. In fact, DNA typing based on PCR amplification of STRs is very sensitive and allows to overcome major problems encountered when using the RFLP method, such as typing of very small amounts of DNA, highly degraded DNA or mixtures of DNA from more than one individual. Two STR systems, HUMTH01 (a tetranucleotide repeat (AATG) sequence located on chromosome 11) and HUMFES/FPS (a tetranucleotide repeat (ATTT) sequence located on chromosome 15) were investigated in order to determine allele and genotype frequencies for a French caucasian population sample. HUMTH01 and HUMFES/FPS alleles were amplified by the use of PCR and amplified STR sequences were analyzed on 6% Hydrolink Long Ranger gels and visualized by silver staining. The study was conducted on a sample of unrelated individuals (N approximately 190) randomly selected from the French caucasian population. The genotype distributions met Hardy-Weinberg expectations for both HUMTH01 and HUMFES/FPS STR systems. Furthermore, an additional allele, never reported before was observed at the HUMFES/FPS locus: it migrates as an allele containing 7 repeat units and corresponds to the smallest allele identified for this locus.
近期通过聚合酶链反应(PCR)扩增DNA序列的技术已被证明是分析可变数目串联重复序列(VNTR)位点的非常有用的工具。短串联重复序列(STR)位点似乎是其他有前景的基于PCR的鉴定系统。事实上,基于STR的PCR扩增进行DNA分型非常灵敏,并且能够克服使用限制性片段长度多态性(RFLP)方法时遇到的主要问题,例如对极少量DNA、高度降解的DNA或来自多个个体的DNA混合物进行分型。为了确定法国白种人群样本的等位基因和基因型频率,对两个STR系统HUMTH01(位于11号染色体上的四核苷酸重复序列(AATG))和HUMFES/FPS(位于15号染色体上的四核苷酸重复序列(ATTT))进行了研究。通过PCR扩增HUMTH01和HUMFES/FPS等位基因,并在6%的Hydrolink Long Ranger凝胶上分析扩增的STR序列,然后通过银染进行可视化。该研究是在从法国白种人群中随机选取的无关个体样本(N约为190)上进行的。对于HUMTH01和HUMFES/FPS这两个STR系统,基因型分布均符合哈迪-温伯格平衡预期。此外,在HUMFES/FPS位点观察到一个以前从未报道过的额外等位基因:它作为一个含有7个重复单元的等位基因迁移,并且对应于该位点鉴定出的最小等位基因。