成纤维细胞生长因子3基因多态性与非综合征型唇腭裂的相关性研究  

Association between fibroblast growth factor 3 polymorphism and non-syndromic oral clefting

作　　者：孙衍波[1] 郭胜胜[1] 黄永清[1,2] 马敏[2] 马坚[2] 任红旺[1] 高军 石冰[4] 

机构地区：[1]宁夏医科大学口腔医院口腔颌面外科 [2]宁夏医科大学附属医院口腔颌面外科 [3]银川市口腔医院口腔颌面外科,宁夏银川750004 [4]四川大学华西口腔医学院口腔颌面外科学教研室,四川成都610041

出　　处：《华西口腔医学杂志》2010年第6期587-590,共4页West China Journal of Stomatology

基　　金：国家自然科学基金资助项目(30660198);2009年国家教育部春晖计划启动基金资助项目(Z2008-1-75020)

摘　　要：目的探讨成纤维细胞生长因子3(FGF3)基因rs4980700、rs4631909单核苷酸多态性(SNP)与非综合征型唇腭裂(NSOC)的相关性。方法收集186例非综合征型唇腭裂患者,患者父亲183例,母亲174例,核心家系172个;200例正常新生儿为对照组。采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法检测FGF3基因rs4980700与rs4631909多态位点基因型,并进行病例对照分析,传递不平衡检验(TDT)和以家系为基础的相关性分析(FBAT)。结果病例组rs4980700多态位点基因型和等位基因频率与对照组比较存在统计学差异(P<0.05);病例组rs4631909多态位点基因型和等位基因频率与对照组比较存在统计学差异(P<0.05),而在腭裂组则无统计学差异(P=0.49)。传递不平衡研究发现,FGF3基因rs4980700位点的G等位基因与rs4631909位点的C等位基因在本研究人群非综合征型唇腭裂患者中存在过传递(P<0.05)。FBAT分析rs4980700、rs4631909多态位点与本研究人群非综合征型唇腭裂存在相关性(P<0.05)。结论 FGF3基因rs4980700、rs4631909多态位点与非综合征型唇腭裂存在相关性。Objective To investigate the association between fibroblast growth factor 3（FGF3） gene rs4980700 and rs4631909 polymorphism and non-syndromic oral clefting（NSOC）.Methods Blood samples from 186 NSOC patients,patients＇ parents and 200 controls were collected.DNA was extracted and PCR-restriction fragment length polymorphism（PCR-RFLP） was used to identify genotypes of the samples.Case-control analyses and transmission disequilibrium test（TDT） and family based association test（FBAT）analyses were also carried out.Results In casecontrol analysis,there were significant differences in rs4980700 genotype and allele among NSOC patients compared with the control group（P0.05） and there were significant differences in rs4631909 genotype and allele among NSOC patients compared with the control group（P0.05）,but no difference in cleft palate only（P=0.49）.In TDT,the G allele of rs4980700 had an overtransmission（P0.05） and the C allele of rs4631909 had an overtransmission（P0.05） in NSOC.FBAT analysis also showed a significant association between FGF3 gene rs4980700,rs4631909 polymorphism and NSOC.Conclusion FGF3 gene rs4980700 and rs4631909 polymorphism were associated with NSOC.

关 键 词：非综合征型唇腭裂 成纤维细胞生长因子3 单核苷酸多态性 

分 类 号：R782.2[医药卫生—口腔医学]