中文摘要：

为了从复杂的生物测序数据中提取遗传病的发病机理,本文提出了基于位点基因型互作网络的遗传病病理提取方法,并建立位点基因型互作网络。为验证该方法的有效性,以人类原发性视网膜色素变性病例及对照组的基因测序数据为例,建立病例组与对照组的位点基因型互作网络。同时,对这两个网络的节点数量及拓扑性质进行差异性分析,并根据提取开关连接与保守连接的算法,分析比较RP1L1与KIF7开关。分析结果表明,开关RP1L1与KIF7跟人类视网膜色素变性存在较强相关。该研究对提取人类视网膜色素变性疾病的发病机理具有现实的生物学意义。

英文摘要：

In order to extract the pathogenetic mechanism of genetic diseases from complex biological sequencing data,this paper proposes a method of extraction of genetic disease pathology based on site-genotype interaction network,and establishes a genotype-based interaction network.As an example,we applied the method to discovery the pathological mechanism of the human Retinitis Pigmentosa（RP）by using the gene sequencing data of Retinitis Pigmentosa（RP）and the control group.Firstly,we constructed two locus genotypes interaction networks,which are named as the control and the disease.At the same time,we compared and analyzed the statistical discrepancy on the proportion and topological properties of nodes between two networks;and the RP1L1 and KIF7switches are found and analyzed according to the algorithm of the connection between the extraction switch and the conservative connection.The results of analysis showed that there is a strong correlation between the switch RP1L1 and KIF7with human Retinitis Pigmentosa（RP）.The study has realistic biological significance in the pathogenesis of human Retinitis Pigmentosa（RP）.