The purpose of our work was to establish a method for analysis of Y-SNP based on the matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. The results of our study implied that the analysis of Y-SNP was proved to be suitable for forensic application and provided new genetic markers for the forensic purpose. D 2005 Published by Elsevier B.V.

Pentanucleotide tandem repeat markers are interesting for forensic sciences, because they may present less stutter on the electrophoretic pattern We focused on the anaysis of the DNA sequence for each allele at the pentanucleotide STR locus D10S2325 in order to understand their structm-es in the buman genome and to construct human allelic ladder, which is necessary for forensic DNA typing. In orderto evaluate the forensic applicability of Dl0S2325 and to construct a preliminary database, the genotype distributions and allele frequencies in three major ethnic groups were investigated The population saillples included Caucasians (Gemlans), Africans (African Americans), and Asians (Chinese). A total of 520 samples from unrelated individuals was analyzed by Amp-FLp. An example of each allele and new alleles were sequenced Anele determination was carried out by comparison with a sequenced human allelic ladder made in-house. This pentanucleotide STR provided easily interpretable results. A total of 15 alleles was found in our population samples ThTee new alleles were observed and named as alleles 19 and 21 based on the number of repeat motifs, While allele 19 can be divided furdier into two alleles. 19a and 19 according to analysis 0f the sequence No evidence of deviation from Hardy-Weinberg equilibfimn was observed in 64 confimled father/motber/child triplets no mutation event was observed. Using a maximmn likelihood method. the mutation rate was indirectly esthnated as 2.5

Single nucleotide polymorphisms (SNPs) are new generation markers. An open question in research on SNPs is how to find novel SNPs in a nature population. To this end, we developed an approach of high-throughput genotyping by applying the temperature-modulated heteroduplex analysis (TMHA) based upon ion-pair reversed-phase high-performance liquid chromatography. This approach allowed a very efficient resolution of identically sized PCR products with a single nucleotide change. This approach was also known as denaturing high-performance liquid chromatography (DHPLC). However, the terms of both TMHA and DHPLC should be considered carefully. The term of DHPLC may lead to confusion in annealing and denaturing. Since TMHA can be carried out using gel electrophoresis and HPLC, there is a need to distinguish HPLC from gel electrophoresis. Therefore, we suggest a new term for this technology, which is temperaturemodulated high-performance liquid chromatography (TmHPLC). This term not only provides a clear definition for this new method, but also includes both TMHA and HPLC. More importantly, TmHPLC implies that the temperature in HPLC is modulated according to Tm of the DNA fragments. Our results show that TmHPLC is a sensitive, accurate and cost effective approach to screening sequence variation in human genome.