Identification of a common single nucleotide polymorphism at the primer binding site of D2S1360 that causes heterozygote peak imbalance when using the Investigator HDplex Kit
| Autor: | Hiroaki Nakanishi, Yasuhiro Yamashita, Kazuma Nishimura, Kazuyuki Saito, Shota Inokuchi |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Heterozygote Genotype Locus (genetics) Single-nucleotide polymorphism Biology Real-Time Polymerase Chain Reaction Polymorphism Single Nucleotide Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine Asian People Gene Frequency Japan Humans Point Mutation 030216 legal & forensic medicine Allele Allele frequency DNA Primers Genetics Point mutation Sequence Analysis DNA DNA Fingerprinting Null allele Molecular biology 030104 developmental biology Microsatellite Primer binding site |
| Zdroj: | International Journal of Legal Medicine. 131:1531-1535 |
| ISSN: | 1437-1596 0937-9827 |
| DOI: | 10.1007/s00414-017-1571-0 |
| Popis: | Phenomena known as null alleles and peak imbalance can occur because of mutations in the primer binding sites used for DNA typing. In these cases, an accurate statistical evaluation of DNA typing is difficult. The estimated likelihood ratio is incorrectly calculated because of the null allele and allele dropout caused by mutation-induced peak imbalance. Although a number of studies have attempted to uncover examples of these phenomena, few reports are available on the human identification kit manufactured by Qiagen. In this study, 196 Japanese individuals who were heterozygous at D2S1360 were genotyped using an Investigator HDplex Kit with optimal amounts of DNA. A peak imbalance was frequently observed at the D2S1360 locus. We performed a sequencing analysis of the area surrounding the D2S1360 repeat motif to identify the cause for peak imbalance. A point mutation (G>A transition) 136 nucleotides upstream from the D2S1360 repeat motif was discovered in a number of samples. The allele frequency of the mutation was 0.0566 in the Japanese population. Therefore, human identification or kinship testing using the Investigator HDplex Kit requires caution because of the higher frequency of single nucleotide polymorphisms at the primer binding site of D2S1360 locus in the Japanese population. |
| Databáze: | OpenAIRE |
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