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

• Type: Article in International Scientific Journal
• Date: 2001

Authors

Alves, C (Author) Other; Amorim, A (Author) FCUP; Gusmao, L (Author) Other; Pereira, L (Author) Other

Journal

Title: International Journal of Legal Medicine

Vol. 115

Pages: 97-99

ISSN: 0937-9827

Publisher: Springer Nature

Indexing

ISI Web of Knowledge - 24 Citations

Scopus - 29 Citations

Scientific classification

FOS: Medical and Health sciences > Other medical sciences

Other information

Authenticus ID: 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 3