MSX1基因A274V多态性与非综合征性唇腭裂的关系  

Association of MSX1 A274V polymorphisms with non-syndromic cleft lip with or without cleft palate

作　　者：王杨红[1] 南欣荣[1] 

机构地区：[1]山西医科大学第一医院口腔科,太原030001

出　　处：《北京口腔医学》2011年第5期256-259,共4页Beijing Journal of Stomatology

基　　金：太原市科技项目资助(085191)

摘　　要：目的研究同源异型盒基因1(muscle segment homeobox1,MSX1)A274V多态性与非综合征性唇腭裂(non-syndromic cleft lip with or without cleft palate,NSCL/P)的关系。方法利用聚合酶链反应-限制性片段长度多态性方法,在162例非综合性唇腭裂患者和195例正常对照中,对MSX1基因A274V单核苷酸多态性进行检测。分析基因型发布频率是否符合Hardy-Weinberg平衡定律。应用UNPHASED软件包分析多态性位点与非综合性唇腭裂的相关性。结果 MSX1 A274V多态性基因型频率分布符合Hardy-Weinberg平衡定律。MSX1 A274V等位基因分布在NSCL/P组与对照组之间有显著性差异(P<0.05)。在NSCL/P组中T等位基因的频率明显高于对照组。结论 MSX1 A274V多态性位点与中国人群非综合性唇腭裂形成相关联。Objective To investigate the association of muscle segment homeoboxl（MSX1） gene A274V polymorphisms with non-syndromic cleft lip with or without cleft palate（NSCL/P） in Chinese population. MethodsGenotyping of rs62636562 was conducted by PCR-based restriction fragment length polymorphism（RFLP） analysis in 162 NSCL/P patients and 195 controls.The χ2 goodness-of-fit test was applied to test whether or not the genotypic distributions of rs62636562 would be in Hardy-Weinberg equilibrium.The UNPHASED program was used to perform χ2 test for the associations. Results The genotypic distribution of A274V was not deviated from the Hardy-Weinberg equilibrium.The allele frequencies were significantly different between patients with NSCL/P and healthy individuals（P0.05）.The frequency of T alleles in the patients was higher than in healthy individuals. Conclusion The polymorphism of MSX1 A274V is associated with NSCL/P in Chinese population and may play a crucial role in the occurrence of this disease.

关 键 词：MSX1 多态性 非综合证性唇腭裂 

分 类 号：R782.2[医药卫生—口腔医学]