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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 association of rs62636562 polymorphism of MSX1 gene with non-syndromic cleft lip and palate (NSCL / P) in North China population. Methods The rs62636562 polymorphism of MSX1 gene was detected in 116 patients with nonsyndromic cleft lip and palate and 123 normal controls by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The relationship between MSX1 gene polymorphism and NSCL / P was analyzed by SPSS13.0 software. Results The frequency distribution of MSX1 genotype was in accordance with Hardy-Weinberg equilibrium. The frequency distribution of MSX1 genotype and allele was statistically significant between NSCL / P group and control group. Conclusion MSX1 rs62636562 polymorphism may be associated with non-syndromic cleft lip and palate in northern Chinese population.