TY - JOUR
T1 - Variant alleles, triallelic patterns, and point mutations observed in nuclear short tandem repeat typing of populations in Bosnia and Serbia
AU - Huel, René L.M.
AU - Bašić, Lara
AU - Madacki-Todorović, Kamelija
AU - Smajlović, Lejla
AU - Eminović, Izet
AU - Berbić, Irfan
AU - Miloš, Ana
AU - Parsons, Thomas J.
PY - 2007/8
Y1 - 2007/8
N2 - Aim: To present a compendium of off-ladder alleles and other genotyping irregularities relating to rare/unexpected population genetic variation, observed in a large short tandem repeat (STR) database from Bosnia and Serbia. Methods: DNA was extracted from blood stain cards relating to reference samples from a population of 32 800 individuals from Bosnia and Serbia, and typed using Promega's PowerPlex® 16 STR kit. Results: There were 31 distinct off-ladder alleles were observed in 10 of the 15 STR loci amplified from the PowerPlex® 16 STR kit. Of these 31 alleles, 3 have not been previously reported. Furthermore, 16 instances of triallelic patterns were observed in 9 of the 15 loci. Primer binding site mismatches that affected amplification were observed in two loci, D5S818 and D8S1179. Conclusion: Instances of deviations from manufacturer's allelic ladders should be expected and caution taken to properly designate the correct alleles in large DNA databases. Particular care should be taken in kinship matching or paternity cases as incorrect designation of any of these deviations from allelic ladders could lead to false exclusions.
AB - Aim: To present a compendium of off-ladder alleles and other genotyping irregularities relating to rare/unexpected population genetic variation, observed in a large short tandem repeat (STR) database from Bosnia and Serbia. Methods: DNA was extracted from blood stain cards relating to reference samples from a population of 32 800 individuals from Bosnia and Serbia, and typed using Promega's PowerPlex® 16 STR kit. Results: There were 31 distinct off-ladder alleles were observed in 10 of the 15 STR loci amplified from the PowerPlex® 16 STR kit. Of these 31 alleles, 3 have not been previously reported. Furthermore, 16 instances of triallelic patterns were observed in 9 of the 15 loci. Primer binding site mismatches that affected amplification were observed in two loci, D5S818 and D8S1179. Conclusion: Instances of deviations from manufacturer's allelic ladders should be expected and caution taken to properly designate the correct alleles in large DNA databases. Particular care should be taken in kinship matching or paternity cases as incorrect designation of any of these deviations from allelic ladders could lead to false exclusions.
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M3 - Article
C2 - 17696304
AN - SCOPUS:34548280931
SN - 0353-9504
VL - 48
SP - 494
EP - 502
JO - Croatian Medical Journal
JF - Croatian Medical Journal
IS - 4
ER -