MSX1基因A274V多态性与非综合征性唇腭裂的关系

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...

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

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.