利用位点信息分析遗传疾病与基因的关联性

人体的许多遗传疾病都与其基因包含的多个位点(SNPs)相关联。因此定位与遗传疾病相关联基因在染色体中的位置,能帮助研究人员了解疾病的遗传机理,预防某些遗传病的发生。利用全基因组关联分析方法,对两类样本(患病,未患病)各个位点上的碱基进行卡方检验,找出某种遗传病最有可能的致病位点,定位其所在的致病基因。利用连锁不平衡系数,得出最可能相关的致病基因,并通过聚类算法检验结论的合理性。

Analysis of the Relationship between GeneticDiseases and Genes by Loci

Many genetic diseases in the human body are associated with multiple single nucleotide polymorphisms (SNPs) in their genes. Therefore, locating the positions of genes associated with genetic diseases in chromosomes can help researchers understand the genetic mechanism of diseases and prevent the occurrence of certain genetic diseases. In this paper, using the genome-wide association study method, we first conduct the chi-square independence test on the bases of the loci in the two samples (diseased, not diseased), and then find out the most likely pathogenic loci of a certain genetic disease in order to locate the pathogenic genes. By analyzing the coefficient of determination- R^2, we obtain the most likely related pathogenic genes, and, finally, demonstrate the rationality of clustering algorithm for testing the conclusion.