中国北方人群MSX1基因多态性与非综合征性唇腭裂的关系  

Association of MSX1 polymorphisms with non - syndromic clef lip with or without cleft palate in a northern Chinese population

作　　者：董臣[1] 焦晓辉[1] 覃彩化[1] 由林[1] 

机构地区：[1]哈尔滨医科大学附属第一临床医学院口腔医院口腔颌面外科二病房,黑龙江150001

出　　处：《中国优生与遗传杂志》2013年第9期13-14,19,共3页Chinese Journal of Birth Health & Heredity

基　　金：黑龙江省自然科学基金重点项目编号:ZD201212

摘　　要：目的探讨同源异型盒基因1(muscle segment homeobox,MSX1)基因rs62636562多态性多态性与中国北方人群非综合征性唇腭裂(NSCL/P)的相关性。方法应用聚合酶链反应-限制性内切酶片段长度多态性分析(PCRRFLP)方法,检测116例非综合征性唇腭裂患者和123例正常对照组的MSX1基因rs62636562多态性。利用SPSS13.0软件分析MSX1基因多态性与NSCL/P的相关性。结果 MSX1基因型的频率分布符合Hardy-Weinberg平衡;MSX1基因型和等位基因频率分布在NSCL/P组与对照组之间有统计学意义。结论 MSX1基因rs62636562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 rs62636562 in MSX1 （muscle segment ho- meobox, MSX1 ） gene and non - syndromic cleft lip and palate （ NSCL / P） in a northern Chinese population. Methods ： The rs62636562 markers in MSX1 was examined by PCR - RFLP in 116 patients and the 123 healthy controls. SPSS13.0 program was used to performx2 test for the associations. Results： The genotypic distribution of MSX1 was not deviated from the Hardy -Weinberg equilibrium. There was significant difference in genotype and allele frequencics for MSX1 rs62636562 variants between patients and healthy individuals. Conclusion： The variation of rs62636562 in MSX1 gene may be associated with NSCL/P in a northern Chinese population.

关 键 词：同源异型盒基因1 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]