中国北方人群非综合征性唇腭裂与BMP4基因多态性的关系  

Association of BMP4 polymorphisms with non-syndromic cleft lip with or without cleft palate in a northern Chinese population

作　　者：由林[1] 焦晓辉[1] 张冰[1] 尹晓东[1] 覃彩化[1] 郝嫣汝[1] 

机构地区：[1]哈尔滨医科大学口腔医院口腔颌面外科,哈尔滨150001

出　　处：《北京口腔医学》2013年第2期82-84,共3页Beijing Journal of Stomatology

基　　金：黑龙江省自然科学基金重点项目(ZD20121);哈尔滨市青年科技创新人才(2009RFQXS037)

摘　　要：目的探讨BMP4基因rs17563多态性与中国北方人群非综合征性唇腭裂的相关性。方法使用聚合酶链反应-限制性内切酶片段长度多态性分析(PCR-RFLP)方法,在116例非综合征性唇腭裂患者和123名健康对照中,对BMP4基因单核苷酸多态性进行检测。利用SPSS13.0软件分析BMP4基因多态性与非综合征性唇腭裂的相关性。结果 BMP4基因型频率分布符合Hardy-Weinberg平衡。在非综合征性唇腭裂组中CC纯合子明显高于健康对照组,差异有统计学意义(P<0.001)。结论 BMP4基因rs17563多态性可能与中国北方人群非综合征性唇腭裂的发生相关。Objective To investigate the relationship between a polymorphism of rs17563 in BMP4 （bone morphogenetic protein 4, BMP4 ） gene and non-syndromic cleft lip and palate （NSCL / P） in a northern Chinese population. Methods The polymerase chain reaction - restriction fragment length polymorphism （PCR-RFLP） method was used to detect a single nucleotide polymorphisms （SNP） of the BMP4 gene in 116 cases of NSCL / P patients and 123 healthy controls. The data were statistically analyzed. Results The genotypic distribution of BMP4 was not deviated from the Hardy-Weinberg equilibrium. The frequency of CC genotype was significantly higher in the patient group than in the control group（ P 〈 0. 001 ）. Conclusion The variation of rs17563 in BMP4 gene may be associated with NSCL/P in a northern Chinese population.

关 键 词：骨形成蛋白4基因 非综合征性唇腭裂 基因多态性 

分 类 号：R782.2[医药卫生—口腔医学]