VWA STR genotyping: further inconsistencies between Perkin-Elmer and Promega kits

• Tipo: Artigo em Revista Científica Internacional
• Data: 2001

Autores

Alves, C (Autor) Outra; Amorim, A (Autor) FCUP; Gusmao, L (Autor) Outra; Pereira, L (Autor) Outra

Revista

Título: International Journal of Legal Medicine

Vol. 115

Páginas: 97-99

ISSN: 0937-9827

Editora: Springer Nature

Indexação

ISI Web of Knowledge - 24 Citações

Scopus - 29 Citações

Classificação Científica

FOS: Ciências médicas e da saúde > Outras ciências médicas

Outras Informações

ID Authenticus: P-000-T4Z

DOI: 10.1007/s004140100215

Abstract (EN): We report a simultaneous study of the VWA STR locus by the Perkin-Elmer Profiler Plus kit and the Promega GenePrint CTTv kit in a population sample from North Portugal and in 418 meiosis from family material and paternity cases. PCR amplification and genotyping were performed according to the manufacturer's instructions using ABI 377 or ABI 310 automatic sequencers. Biological kinship in family material and paternity cases was validated by the use of the STR loci D3S1358, D5S818, D7S820, D8S1179, D13S317, D18S51, D21S11, FGA, CSF1PO, TH01 and TPOX. Out of 434 unrelated individuals we found 4 inconsistencies between the genotypes obtained using each kit. No exclusions were found in the meiotic analyses. In all cases, these inconsistencies were due to an annealing failure of the Perkin-Elmer forward primer resulting in false homozygotes. Sequencing analysis revealed an A-to-T substitution at position 1631 (GenBank sequence M25858), 52 bases upstream of the first TCTA motif of the repeat region. An estimate of the null allele frequency (s) in this study is thus obtainable from the expression s = 4/(2 x 434) = 0.46%. The relatively high frequency of these discrepancies in our population demonstrates the need for caution when comparing genotype or gene frequency estimates made from amplicons produced by different primers, when evaluating apparent exclusions in paternity testing and when searching for a match between individual genetic profiles in forensic databases. Our findings are also compared with those previously reported.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 3