MAFB基因多态性在宁夏回汉人群中与非综合征型唇腭裂的相关性研究  

The association of MAFB gene polymorphism with nonsyndromic cleft lip with or without cleft palate in Ningxia Hui and Han population

作　　者：马丽娟[1] 杜雪飞[1] 董文[1] 周忠伟[2] 杨雄[1] 信燕华[3] 马坚[2] 姜敏[2] 黄永清[1] 

机构地区：[1]宁夏医科大学口腔医学院,银川750004 [2]宁夏医科大学总医院 [3]宁夏自治区人民医院

出　　处：《实用口腔医学杂志》2015年第1期57-62,共6页Journal of Practical Stomatology

基　　金：2011年国家自然科学基金(编号:81160131)

摘　　要：目的:探讨中国宁夏地区回汉族人群中v-maf肌腱膜纤维肉瘤癌基因同源物B(MAFB)基因的rs6072081、rs6065259、rs17820943、rs11696257位点单核苷酸多态性与非综合征型唇腭裂(NSCL/P)的相关性。方法:收集宁夏地区NSCL/P患儿病例组512例(汉族254例,回族258例),完整3人核心家系(患者及其父母)174个,单方父母家系(患者及其单方父母)142个。新生儿对照组505例(汉族243例,回族262例)。采用Taq Man基因型鉴定方法进行基因分型,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:MAFB基因4个位点在病例组中基因型和等位基因频率与对照组比较有统计学意义(P<0.05);这4个位点在腭裂组中均无统计学意义(P>0.05)。结论:宁夏人群中MAFB基因的4个位点单核苷酸多态性与非综合征型唇腭裂有关联。Objective：To study the association between non-syndrome cleft lip and palate （NSCL/P）and MAFB （rs6072081, rs6065259,rs17820943,rs11696257）gene polymorphism in NingXia Hui and Han population.Methods：512 cases of NSCL/P,258 case of Hui nationality and 254 of Han,174 cases of complete 3 core family members（patients and their parents）,142 cases of single parents families（patients and their single parents）,were collected in patient group.505 cases of healthy newborns were collected in control group.The MAFB gene SNPs were determined with TaqMan SNPs genotyping methods and the data were analyzed by case-con-trol analysis,transmission disequilibrium test（TDT）and family based association test（FBAT）.Results：Case-control analysis found that,there was a statistical significance of the genotypes and allele frequency between patients and the controls in MAFB of the 4 locus （P 〈0.05）;but all of the 4 locus showed no difference in patients with cleft palate（P 〉0.05）.Conclusion：The 4 locus single nucle-otide polymorphism was associated with NSCL/P in Ningxia population.

关 键 词：非综合征型唇腭裂(NSCL/P) MAFB 单核苷酸多态性(SNPs) 

分 类 号：R782.2[医药卫生—口腔医学]