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The DNA Commission of the International Society of Forensic Genetics (ISFG) regularly publishes guidelines and recommendations concerning the application of DNA polymorphisms to the question of human identification. Previous recommendations published in 2000 addressed the analysis and interpretation of mitochondrial DNA (mtDNA) in forensic casework. While the foundations set forth in the earlier recommendations still apply, new approaches to the quality control, alignment and nomenclature of mitochondrial sequences, as well as the establishment of mtDNA reference population databases, have been developed. Here, we describe these developments and discuss their application to both mtDNA casework and mtDNA reference population databasing applications. While the generation of mtDNA for forensic casework has always been guided by specific standards, it is now well-established that data of the same quality are required for the mtDNA reference population data used to assess the statistical weight of the evidence. As a result, we introduce guidelines regarding sequence generation, as well as quality control measures based on the known worldwide mtDNA phylogeny, that can be applied to ensure the highest quality population data possible. For both casework and reference population databasing applications, the alignment and nomenclature of haplotypes is revised here and the phylogenetic alignment proffered as acceptable standard. In addition, the interpretation of heteroplasmy in the forensic context is updated, and the utility of alignment-free database searches for unbiased probability estimates is highlighted. Finally, we discuss statistical issues and define minimal standards for mtDNA database searches. [ABSTRACT FROM AUTHOR]

Abstract: A very short FGA allele *14 and a long D19S433 allele *19.2 were detected and sequenced, as well as the new D8S1132 alleles *12.1, *14 and *15.1. Further new sequence data (vWA allele *18.3, D18S51 allele *11.2, SE33 alleles *24.2, *32, *34 and *37, including the rare variant allele *13.2) are described. [Copyright &y& Elsevier]

A new human leukocyte allele HLA-B*8102 has been identified in a cell provided by the UCLA International Cell Exchange scheme. The nucleotide sequences of exons 2 and 3 of the new allele are identical with HLA-B*8101. Four nucleotide differences, however, are observed in exon 1, three of them representing non-synonymous base changes. [ABSTRACT FROM AUTHOR]

Abstract: ACTBP2 (SE33), D3S1358, D8S1132, D18S51 and D21S11 are frequently used STR-loci in the forensic field. This study reports sequence data of further new or rare alleles at these loci, varying in length or in sequence, which were detected in course of investigations for various purposes. [Copyright &y& Elsevier]

On the occasion of a study on mutation rates of human STR loci, numerous alleles have been sequenced. Several new sequence or length variant alleles were found. [Copyright &y& Elsevier]