False homozygosities at CSF1PO loci revealed by discrepancies between two kits in Chinese population.
During the course of paternity test, three samples in two cases were apparently homozygous at the CSF1PO locus using AmpFlSTRs Identifiler PCR Amplification kits, but using the PowerPlexs 16 kit, the three individuals were found to be heterozygous. This puzzling problem was solved by using multiple analytical approaches, including the use of different primer pairs and the characterization of the mutation causing the ''null allele.'' Dropout was caused by a single mutation event in the presumptive binding site of the forward primer. While the frequency of these silent alleles remains low (0.5% in our study), it is suggested that appropriate measures should be taken for database comparisons and that allelic dropout should be further investigated by sequence analysis and be reported to the forensic community.
Zhai
Xian-Dun
XD
Department of Forensic Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu, 610041, Sichuan, China.
Xue
Xiao-Qi
XQ
Mo
Yao-Nan
YN
Zhao
Gui-Sei
GS
Ai
Hong-Wei
HW
Ye
Yi
Y
Wang
Zheng
Z
Hou
Yi-Ping
YP
D000483:Alleles; D001665:Binding Sites / Q000235:genetics; D002681:China; D017931:DNA Primers; D006720:Homozygote; D006801:Humans; D009154:Mutation; D010334:Paternity; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
D017931:DNA Primers