MSX1基因多态性与山西地区非综合征性唇腭裂的相关性研究

Association between muscle segment homeobox 1 gene polymorphism and non-syndromic cleft lip with or without palate in the chinese population of Shanxi province

目的:研究MSX1基因外显子区rs13127820(M146L)、rs62636562(A274V)位点多态性与非综合征性唇腭裂(non-syn-dromic cleft lip with or without cleft palate,NSCL/P)的关系。方法:通过聚合酶链反应-限制性片段长度多态性方法,检测243例非综合征性唇腭裂(NSCL/P)患者和292例正常对照者全血标本中MSX1基因rs13127820(M146L)、rs62636562(A274V)位点的多态性。结果:MSX1基因位点rs13127820(M146L)、rs62636562(A274V)基因型频率分布符合Hardy-Weinberg平衡;MSX1基因位点rs13127820(M146L)、rs62636562(A274V)等位基因频率分布在NSCL/P组与对照组之间差异有统计学意义(P<0.05)。结论:结果显示MSX1基因位点多态性与NSCL/P的发生有关。

Objective： To investigate the association of the rs13127820（M146L） and rs62636562（A274V） polymorphism of muscle segment homeobox 1 （MSX1） gene with non-syndromic cleft lip with or without cleft palate（NSCL/P） in Chinese population of Shanxi Province. Methods ： The rsl 3127820 （M146L） and rs62636562 （A274V） polymorphisms of MSX1 gene were examined by PCR- RFLP in 243 patients with NSCL/P and 292 heathy controls. Results： The genotypic distribution of＇rs13127820 （M146L） and rs62636562 （A274V） was not deviated from the Hardy-Weinberg equilibrium. There were significant difference in allele frequencies of MSX1 rs13127820（M146L） and rs62636562（A274V） variants between patients with NSCL/P and healthy individuals （P 〈0.05）. Conclu- sion： The polymorphism of MSX1 gene is associated with NSCL/P in Chinese population of Shanxi province.