The Korean Journal of Applied Statistics (응용통계연구)

The Korean Statistical Society (한국통계학회)
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Estimation of Haplotype Proportions in Single Necleotide Polymorphism Group Using EM Algorithm

EM 알고리듬을 이용한 단일염기변이 (SNP;SINGLE NUCLEOTIDE POLYMORPHISM)군의 일배체형 (HAPLOTYPE) 비율 추정

  • 김선우 (삼성생명과학연구소, 통계지원팀) ;
  • 김종원 (성균관대학교 의과대학, 삼성의료원, 진단검사의학과) ;
  • 이경아 (고려대학교 의과대학, 고려대학교 안암병원, 진단검사의학과)
  • Published : 2003.09.01
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Abstract

Haplotype analysis in SNP is very useful for the study of complex genetic disease due to low cost and high efficiency comparing to individual analysis of each SNP, and is functionally important in biological view. But, the gametic phase of haplotypes is usually unknown in SNP group, and it is difficult to predict haplotype proportions. In this study, haplotype proportions were estimated using EM algorithm from diploid data of SNP group in solid tumor group and normal group. From these results, linkage disequilibrium among SNPs was analyzed.

복합성유전질환 연구에 있어서 단일염기변이를 이용한 일배체형 분석은 개별적인 단일염기변이 분석에 비하여 비용 및 효율 면에서 훨씬 유용하며, 생물학적으로도 기능적 중요성을 갖는 것으로 평가되고 있다. 그러나 일반적인 유전형분석방법을 이용한 단일염기변이군 자료는 이배체형(diploid)으로서 위상(phase)을 확인할 수 없으므로 일배체형 비율을 예측하기 어렵다. 본 연구에서는 고형종양 환자군과 정상군의 단일염기변이군 이배체형 자료가 주어졌을 때 단일염기변이군 일배체형 비율의 우도함수에 EM알고리듬을 적용하여 각 일배체형의 비율을 추정하였다. 이로부터 단일염기변이간의 연관불균형(linkage disequilibrium)을 분석하여 고형 종양과 연관 가능성이 있는 단일염기변이를 살펴보았다.

Keywords

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