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

Bibliographic Data

ID21109181
AuthorsChang Seok Oh (0000-0001-6913-1832, Laboratory of Bioanthropology, Paleopathology, and History of Diseases, Department of Anatomy, Seoul National University College of Medicine, Seoul), Dong Hoon Shin (0000-0001-8032-1266, Laboratory of Bioanthropology, Paleopathology, and History of Diseases, Department of Anatomy, Seoul National University College of Medicine, Seoul), Jong Ha Hong (0000-0002-4064-5845, Laboratory of Bioanthropology, Paleopathology, and History of Diseases, Department of Anatomy, Seoul National University College of Medicine, Seoul), Soong Deok Lee (0000-0003-4270-4279, Institute of Forensic Science, Seoul National University College of Medicine, Seoul), Eunju Lee (0000-0002-5501-670X, Department of Internal Medicine, Asan Medical Center, University of Ulsan, Seoul), Eun‐ju Lee (0000-0003-4612-0625, Asan Medical Center)
Year2018
Volume126
Issue2
Pages67-73
Publication date2018-01-01
Peer ReviewedYes
Open AccessYes
TypeARTICLE
VenueAnthropological Science (JOURNAL)
Journal identifiersISSN: 0918-7960 • E-ISSN: 1348-8570
PublisherAnthropological Society of Nippon (PUBLISHER • JP)
DOI10.1537/ase.180302
OpenAlexW2803260713
LanguageEN
Citations received1
References cited29

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

ABO blood group system · Biology · Gene · Genotype · Single-nucleotide polymorphism · Forensic Anthropology and Bioarchaeology Studies · Forensic Entomology and Diptera Studies · Paleopathology and ancient diseases · Genetics

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