CAJ | 학술논문

目的通过家系资料,对比分析不同统计学单倍型推算方法在HLA-A-B-C三基因座位单倍型推算运用中的准确性及有效性.方法选择558例有完整家系资料的个体,通过SAS/Genetics、Arlequin遗传学分析软件的EM算法、ELB算法分别进行单倍体确认,计算个体单倍型频率,并与家系分析结果相比较.结果 558例研究个体中,SAS/Genetics、Arlequin遗传学分析软件的EM算法、ELB算法分别估算得到248、247和238种单倍型,推算准确率分别为88.5％、89.1％,90.3％.3种软件推算方法得到的单倍型推算准确性、最常见单倍型分布差异无统计学意义.结论运用统计学推算软件进行群体数据的单倍型推算可获得较高的准确性,3种算法得到的常见单倍型频率差异无统计学意义.但总体来说,ELB算法更加准确.
목적 통과가계자료,대비분석불동통계학단배형추산방법재HLA-A-B-C삼기인좌위단배형추산운용중적준학성급유효성.방법 선택558례유완정가계자료적개체,통과SAS/Genetics、Arlequin유전학분석연건적EM산법、ELB산법분별진행단배체학인,계산개체단배형빈솔,병여가계분석결과상비교.결과 558례연구개체중,SAS/Genetics、Arlequin유전학분석연건적EM산법、ELB산법분별고산득도248、247화238충단배형,추산준학솔분별위88.5％、89.1％,90.3％.3충연건추산방법득도적단배형추산준학성、최상견단배형분포차이무통계학의의.결론 운용통계학추산연건진행군체수거적단배형추산가획득교고적준학성,3충산법득도적상견단배형빈솔차이무통계학의의.단총체래설,ELB산법경가준학.
Objective We evaluated the accuracy and efficiency of computational inference methods for haplotype on estimate HLA-A-B-C haplotype frequencies by compared with the haplotypes manually defined in a family-base dataset.Methods 558 individuals with pedigree information were selected,and their haplotyps were compared with the data obtained by the following three method:the ExpectationMaximization ( EM ) and Excoffier-Laval-Balding (ELB) algorithms using the AELEQUIN software,and the SAS/Genetics PROC HAPLOTYPE method.Results After performing the SAS/Genetics method,and the Expectation-Maximization ( EM ) and Excoffier-Laval-Balding ( ELB ) algorithms using the AELEQUIN software,248,247,and 238 different haplotypes were obtained respectively.The accuracy rates of these three methods were 88.5％,89.1％,and 90.3％ respectively.There are no significant different in the accuracy and estimated haplotype frequency comparisons among any two of these computational inference methods.Conclusion High accuracy haplotype frequency estimate rates could be obtained by these three computational inference methods,and there are no significant difference in the comparison of haplotypes estimated by SAS/Genetics,the EM and ELB algorithms using the AELEQUIN software.However,ELB algorithm shows better performance than EM algorithm and SAS/Genetics PROC HAPLOTYPE method for haplotype frequencies estimation in general.