具有遗传性疾病和性状的遗传位点分析  

Genetic SNPs Analysis of Hereditary Diseases

作　　者：庞加平 黄姚宇翀 朱一琳 

机构地区：[1]上海财经大学信息管理与工程学院,上海200433 [2]上海财经大学金融学院,上海200433 [3]上海财经大学公共经济与管理学院,上海200433

出　　处：《数学的实践与认识》2017年第14期107-117,共11页Mathematics in Practice and Theory

摘　　要：近年来,位点已成为人们研究DNA遗传信息的重要载体,其在疾病的性状和遗传机理的研究方面有重大帮助.主要结合遗传统计学中全基因组关联性分析(GWAS)、统计检验和机器学习等方法,通过对比分析样本人群的健康状况或疾病性状与位点编码来确定致病位点或致病基因的位置,并且通过受限制的波兹曼机(Restricted Boltzmann Machine,RBM)对一组疾病特征进行降维,从而能够结合统计检验方法特定该组疾病特征相应的致病位点.In recent years, the SNP has become an important carrier for the study of DNA genetic information, which has great help in the study of disease traits and genetic mechanism. In this paper, the location of pathogenic or pathogenic genes was determined by comparing the Genome-wide association study（GWAS）, statistical test and machine learning in the ge- netic statistics, and comparing the health status, disease traits andSNPs＇coding of the sample population, and The disease characteristics were reduced by RBM, which could be used to determine the corresponding pathogenic loci of the disease characterized by statistical test.

关 键 词：全基因组关联性分析 Hotelling-T2检验 Kruskal-Wallis检验 卡方齐性检验 受限制波兹曼机 

分 类 号：O212.1[理学—概率论与数理统计]