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

IF 1.9 4区社会学 Q3 EVOLUTIONARY BIOLOGY

Anthropological Science Pub Date : 2018-01-01 DOI:10.1537/ASE.180302

C. Oh, D. Shin, J. Hong, Soong Deok Lee, Eunju Lee

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引用次数: 4

Abstract

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 rs4752566TT (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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韩国朝鲜木乃伊ABCC11、EDAR、FGFR2和ABO基因型的单核苷酸多态性分析

尽管先前的研究已经成功地证明了现代样本的单核苷酸多态性(SNP)基因分型，但这种方法对古人类样本的潜在适用性尚未得到证实。特别是ABCC11、EDAR、FGFR2和ABO基因的snp，这些基因在生物医学研究中都是常用的分析对象，目前关于古代标本的论文数量相对有限。因此，我们研究了朝鲜王朝木乃伊的ABCC11、EDAR、FGFR2和ABO基因的SNP基因型。采用多重单碱基延伸(SBE)引物对每个基因座进行聚合酶链反应(PCR)分析，确定脑样本(n = 5)的SNP基因型。SNP分析显示，这些木乃伊的ABCC11基因型为538AA(干型耳垢，腋窝腋臭风险低)。在EDAR和FGFR2基因中，鉴定出指示浓密和直发的变异等位基因rs3827760-CC (EDAR)和rs4752566TT (FGFR2)。此外，还鉴定出ABO基因型BO02 (SN1-2)、O01O02 (Sapgyo)、AO01 (Hadong2)、BB (Yongin)和o020002 (SN PK)。我们对韩国木乃伊的SNP基因分型为我们提供了对这种方法应用于古人类标本分析的潜力的具体见解。这项研究填补了我们在法医学中使用SNP基因分型的知识空白，证明它可以帮助揭示古代个体的身体特征。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Anthropological Science 生物-进化生物学

CiteScore

1.50

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Anthropological Science (AS) publishes research papers, review articles, brief communications, and material reports in physical anthropology and related disciplines. The scope of AS encompasses all aspects of human and primate evolution and variation. We welcome research papers in molecular and morphological variation and evolution, genetics and population biology, growth and development, biomechanics, anatomy and physiology, ecology and behavioral biology, osteoarcheology and prehistory, and other disciplines relating to the understanding of human evolution and the biology of the human condition.