한국인과 일본인에서 1번 염색체에 부착되는 microsatellite marker의 특징

Characterization of microsatellite markers covering chromosome 1 in the Korean and Japanese populations

  • 이유진 (부산대학교 치과대학 교정학교실) ;
  • 박수병 (부산대학교 치과대학 교정학교실)
  • Lee, You-Jin (Orthodontic Department of Dental College, Busan National University) ;
  • Park, Soo-Byung (Orthodontic Department of Dental College, Busan National University)
  • 발행 : 2004.12.01

초록

Microsatellite market는 유전연관분석을 위한 매우 유용한 유전표지이다. 그러나 대부분의 market들은 서양인의 정보를 이응하고 있으므로 다른 종족에서 사용할 때는 종족간에 존재할 수 있는 유전 변이의 현저한 차이를 검증해야 한다. 한국인과 일본인 집단에서 종족간 유전 변이를 조사하기 위하여, 각각 96명의 비 혈연관계의 한국인과 일본인 개체들에서 DNA를 채취하였다 그리고 microsatellite set(ABI PRISM Linkage Mapping Set- HDS, Applied Biosystems, Foster City, CA, USA)을 이용하여 1번 인간 염색체 전 부위에 걸쳐 51개의 microsatellite marker들을 배열하고 부착된 marker들의 위치를 분석하여 대립유전자 빈도와 이형질성을 결정하였다 그 결과, 한국인과 서양인 집단 사이에는 현저한 차이를 보였으나 한국인과 일본인 집단 사이에서는 매우 유사하였다. 본 연구의 결과는 유전 연관 연구에 앞서 일반적으로 상용되는 microsatellite marker에 관한 광범위한 검증을 반드시 시행하여야 한다는 것을 나타낸다. 또한 한국인과 일본인 집단 사이에서 유사하게 나타난 대립유전자 빈도와 이 형질성은 두 민족간의 동질성이 높다는 것을 의미하므로 두 민족을 대상으로 한 1번 인간염색체와 관련된 유전 질환의 유전 연관 연구를 시행할 때 동일한 microsatellite marker의 이용 가능성을 제시하였다.

Microsatellit markers are considered to be very promising genetic markers for genetic linkage analysis. The majority of the markers are as informative as in Caucasians but there are significant ethnic differences in the genetic variations. In order to investigate the genetic variations in the Korean and Japanese populations and their ethnic differences, 51 microsatellite marker loci spanning the whole human chromosome 1 were arranged from a commercially available set (ABI PRISM Linkage Mapping Set-HD5, Applied Biosystems, Foster City, CA, USA), and then determined the allelic frequencies and heterozygosities for these marker loci in the 90 unrelated Korean subjects and 90 unrelated Japanese subjects. Of all 51 markers tested, significant differences were observed when microsatellite allele frequency pattern of Korean was compared with those of Caucasian, while this pattern was highly similar between Korean and Japanese populations. Our data indicate that an extensive verification of public microsatellite markers in a particular population study should be undertaken prior to their linkage studies. Moreover, this information should facilitate genetic linkage studies of various hereditary diseases, especially in the Koreans and Japanese.

키워드

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