Abstract (EN):
We report the simultaneous study of VWA STR locus by the Perkin Elmer's Profiler Plus(TM) kit and the Promega GenePrint(TM) CTTv kit in a population sample from Northern Portugal and in 230 meiosis from family material and paternity cases. PCR amplification and genotyping were performed according to 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 TPO. Out of 388 unrelated individuals we found one inconsistency between the genotypings in each kit: using Profiler it was found to be 16 and with GenePrint 16-18. Since primer sequences were not available from the manufacturers we could not sequence the corresponding regions. However, it is tempting to interpret the inconsistency as a result of a Perkin Elmer primer annealing failure. No exclusions were found in the meiotic analysis. An estimate of the null allele frequency (s) using the PE kit simultaneously with Promega GenePrint is thus obtainable from the expression 2s= 1/386 =0.0013. The finding now reported evidences the need for caution when comparing genotypings or gene frequency estimates made in amplicons produced by different primers.
Language:
English
Type (Professor's evaluation):
Scientific
No. of pages:
3