옛사람뼈 DNA에서 HLA-DRB1 염기서열의 분석
HLA-DRB1 Study of DNA from Ancient Human Skeleton by Sequence-based Typing
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초록
옛사람 시료의 DNA 분석은 인류학 및 사람 진화 연구에서 최근 세계적으로 널리 이용되고 있는 추세이다. 인류의 유전자 연구에 있어서 사립체 DNA 및 Y 염색체 DNA와 더불어 널리 이용되고 있으나 옛사람으로부터 HLA 분석은 드문 형편이다. 본 연구에서는 고대 사람 시료로부터 HLA 유전자의 염기서열의 분석을 위해 PCR 증폭할 수 있는 방법을 개발하고자 하였다. 연구자들은 염기서열에 기초한 HLA-DRB1 분석을 위한 방법을 개발하였고, 3000년 전부터500년 전에 해당하는 한국과 몽골 지역에서 출토된 옛사람뼈로부터 HLA-DRB1의 염기서열을 밝혀 대립유전자의 유형을 분석하였다. 유전자형은 HLA database (http://www.ebi.ac.uk/Tools/blast2/nucleotide.html)에서 염기서열을 비교하여 대립유전자형을 결정하였다. 한국인과 몽골인의 HLA-DRB1의 대립유전자는 유형별로 분리하여 구분하였고, 이외에도몽골의 지형적 분류를 근거로 서부, 중부, 동부, 그리고 북부로 구분하여 각 대립유전자형의 빈도를 나타내었다. 종합하면 옛사람뼈에서 분리 정제한 DNA로부터 성공적으로 HLA-DRB1을 증폭하여 대립유전자의 유형을분석할 수 있었다. 이 방법은 앞으로 HLA 염기서열 분석을 통해 개인이나 개체군의 유연관계 분석을 위해 이용될 수 있을 것으로 기대한다.
Abstract
The analysis of ancient human DNA is increasingly used recently in the study of anthropology and human evolution. Although mitochondrial DNA and Y chromosomal DNA has commonly been the target in the field of human DNA study, HLA analysis of ancient human DNA is extremely rare. This study aimed to develop the PCR method of ancient human DNA for analyzing the sequence of HLA. Authors established a new method for HLA-DRB1 analysis by sequence-based typing. Alleles of HLA-DRB1 were analyzed and typed by sequencing with DNA of ancient human skeletons from Korea and Mongolia 3000-500years ago. The types of HLA-DRB1 were determined by comparing the sequences with those of HLA database (http://www. ebi.ac.uk/Tools/blast2/nucleotide.html). The alleles of HLA-DRB1 of ancient human DNA from Korea and Mongolia were classified by types. The frequencies of HLA-DRB1 types of Mongolia were also presented according to the geography such as West, Central, East, and North. In summary, our method was successful in the analyzing the type of HLA-DRB1 from DNA of ancient human bones. Authors anticipate that many researchers could do their research in a better way to get the genetic information for the kinship analysis between individuals or communities from ancient human bones.
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