摘要
目的:用生物信息学的方法筛选宫颈癌易感基因HLA-DRB1编码区的单核苷酸多态性(coding single nucleo-tide polymorphisms,cSNPs)位点,并对其多态性的变异是否会导致基因的功能异常进行分析和验证。方法:以dbSNP数据库的SNPs为来源,使用专业软件对HLA-DRB1基因编码区的SNPs进行评价和分析,然后对候选SNPs位点在病例对照组中验证。结果:在HLA-DRB1基因的编码区发现3个SNPs(rs1059582、rs1059576、rs1059586)的变化会引发错义突变,PSSM Differ-ence值(接近或大于10)较高,预测该SNPs为有害突变。其中rs1059586在宫颈癌组中的基因型分布与对照组不同,差异有统计学意义(P=0.029)。结论:生物信息学与病例对照研究相结合研究复杂疾病相关SNPs位点简便、经济、高效,对研究遗传标记与复杂性疾病的关系有重要意义。
Objective： To analyze and verify abnormal gene function induced by variation of polymorphism or not by means of screening single nueleotide polymorphisms （SNPs） sites of HLA - DRB1 gene coding region with bioinformatical strategy. Methods： SNPs of HLA -DRB1 gene coding region were evaluated and analyzed with professional software from SNPs in dbSNP database, then candidate SNPs sites were verified in case -control group. Results： The changes of three SNPs （rs1059582, rs1059576, rs1059586） induced missense mutation in HLA -DRB1 gene coding region, the high SSM difference value （ 〉 10） predicted SNPs as adverse mutation, there was significant difference in distribution of rs1059586 genotype between cervical cancer group and control group （P = 0. 029 ） . Conclusion： Bioinformatics and case -control study play important roles in investigating the relationship between genetic markers and complex diseases, and they are convenient, economic and efficient in study of complex disease- related SNPs.
出处
《中国妇幼保健》
CAS
北大核心
2010年第13期1842-1845,共4页
Maternal and Child Health Care of China
基金
天津医科大学校级攻关基金项目〔2006KY02〕
