Forensic validation of the modified ABO genotyping method using a DNA chip

Watanabe, Ken; Hosoya, Mayuko; Hirayama, Koichi; Saitoh, Hisako; Iwase, Hirotaro; Ikegaya, Hiroshi; Akutsu, Tomoko; Sekiguchi, Kazumasa; Sakurada, Koichi

doi:10.1016/j.legalmed.2013.01.004

Cited by 11 publications

(3 citation statements)

References 15 publications

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“…By combination of codominant A and B alleles and recessive O allele, ABO gene determines four different phenotypes: A, B, AB, and O (Lalueza-Fox et al 2008). ABO genotyping is also useful for archaeological science because it can determine the blood type of ancient people without serological testing (Watanabe et al 2013).…”

Section: Ancient Dna Analysismentioning

confidence: 99%

Joseon Dynasty Mummies of Korea

Shin¹,

Oh²,

Hong³

et al. 2020

The Handbook of Mummy Studies

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Joseon dynasty people's life has been delineated by studies based on the extant historical literature in Korea. Notwithstanding this, over the recent several decades too, archaeologists have investigated the sixteenth-to eighteenth-century Joseon period mummies to glean corroborative or corrective data on that specific time period. In the studies, Joseon mummy's almost-perfect preservation state has surprised anthropologists and attracted the attention of archaeologists, due to the high academic value of the artifacts interred with them. This chapter provides a general overview of the research work on Korean mummies that has been represented in academia.

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Section: Ancient Dna Analysismentioning

confidence: 99%

Joseon Dynasty Mummies of Korea

Shin¹,

Oh²,

Hong³

et al. 2020

The Handbook of Mummy Studies

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“…Polymerase chain reaction specific sequence primer (PCR-SSP) (13), PCR sequence-based typing (PCR-SBT) (10,(14)(15)(16)(17)(18), gene-chip (19,20), and next-generation sequencing (NGS) methods (21)(22)(23)(24) have been used for ABO genotyping. The PCR-SBT method has advantages in finding new variants.…”

Section: Introductionmentioning

confidence: 99%

Analysis of the Genomic Sequence of ABO Allele Using Next-Generation Sequencing Method

Hong

Zhang

et al. 2022

Front. Immunol.

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BackgroundAlthough many molecular diagnostic methods have been used for ABO genotyping, there are few reports on the full-length genomic sequence analysis of the ABO gene. Recently, next-generation sequencing (NGS) has been shown to provide fast and high-throughput results and is widely used in the clinical laboratory. Here, we established an NGS method for analyzing the sequence of the start codon to the stop codon in the ABO gene.Study Design and MethodsTwo pairs of primers covering the partial 5’-untranslated region (UTR) to 3’-UTR of the ABO gene were designed. The sequences covering from the start codon to the stop codon of the ABO gene were amplified using these primers, and an NGS method based on the overlap amplicon was developed. A total of 110 individuals, including 88 blood donors with normal phenotypes and 22 ABO subtypes, were recruited and analyzed. All these specimens were first detected by serological tests and then determined by polymerase chain reaction sequence-based typing (PCR-SBT) and NGS. The sequences, including all the intron regions for the specimens, were analyzed by bioinformatics software.ResultsAmong the 88 blood donors with a normal phenotype, 48 homozygous individuals, 39 heterozygous individuals, and one individual with a novel O allele were found according to the results of the PCR-SBT method. Some single-nucleotide variants (SNV) in intronic regions were found to be specific for different ABO alleles from 48 homozygous individuals using the NGS method. Sequences in the coding region of all specimens using the NGS method were the same as those of the PCR-SBT method. Three intronic SNVs were found to be associated with the ABO subtypes, including one novel intronic SNV (c.28+5956T>A). Moreover, six specimens were found to exhibit DNA recombination.ConclusionAn NGS method was established to analyze the sequence from the start codon to the stop codon of the ABO gene. Two novel ABO alleles were identified, and DNA recombination was found to exist in the ABO alleles.

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“…Advancements in ABO genotyping enable the prediction of an individual's blood type based on the outcome of genetic analysis. ABO genotypes are especially useful in forensic or archaeological cases, because they make it possible to determine blood type without the need for serological analysis (Watanabe et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

Single-nucleotide polymorphism analyses on ABCC11, EDAR, FGFR2, and ABO genotypes of mummified people of the Joseon Dynasty, South Korea

Shin

Hong

et al. 2018

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Although previous studies have demonstrated successful single-nucleotide polymorphism (SNP) genotyping of modern samples, the potential applicability of this methodology to ancient human specimens has not been confirmed. With regard in particular to the SNPs in the ABCC11, EDAR, FGFR2, and ABO genes, all of which are commonly analyzed in biomedical research, only a relatively limited number of papers on ancient specimens are currently available. We thus studied the SNP genotypes in the ABCC11, EDAR, FGFR2, and ABO genes of mummies from the Joseon Dynasty of Korea. Those SNP genotypes in brain samples (n = 5) were determined using multiplex single-base extension (SBE) primers in polymerase chain reaction (PCR) analyses of each gene locus. SNP analysis revealed the mummies' ABCC11 genotype was revealed to be 538AA (dry-type earwax and low risk for axillary osmidrosis). In the EDAR and FGFR2 genes, the variant alleles rs3827760-CC (EDAR) and rs4752566-TT (FGFR2), indicative of thick and straight hair, were identified. In addition, the ABO genotypes BO02 (SN1-2), O01O02 (Sapgyo), AO01 (Hadong2), BB (Yongin), and O02O02 (SN PK) were identified. Our SNP genotyping of Korean mummies provided us with specific insight into the potential of this methodology for application to the analysis of ancient human specimens. This study fills a gap in our knowledge of the use of SNP genotyping in forensic medicine by proving that it can help to reveal the physical traits of ancient individuals.

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Forensic validation of the modified ABO genotyping method using a DNA chip

Cited by 11 publications

References 15 publications

Joseon Dynasty Mummies of Korea

Joseon Dynasty Mummies of Korea

Analysis of the Genomic Sequence of ABO Allele Using Next-Generation Sequencing Method

Single-nucleotide polymorphism analyses on ABCC11, EDAR, FGFR2, and ABO genotypes of mummified people of the Joseon Dynasty, South Korea

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