目的探讨MSX1基因编码区突变G267C和P278S与广东人群非综合征性唇腭裂(NSCL/P)发病的相关性。方法收集广东籍NSCL/P患儿100名及健康对照者91名的外周血,提取基因组DNA,应用基质辅助激光解吸电离-飞行时间质谱技术(MALDI-TOF-MS)对MSX1基因编码区G267C和P278S突变进行研究。结果 G267C(799G>T)和P278S(832C>T)的突变在本次研究的广东人群中并未发现。结论 MSX1基因编码区G267C和P278S突变与中国广东人群NSCL/P没有明显的相关性。 Objective To investigate the relationship between mutations in the coding region of MSX1 gene G267C and P278S and the non-syndromic cleft lip and palate (NSCL / P) in Guangdong population. Methods Peripheral blood of 100 NSCL / P children and 91 healthy controls were collected and genomic DNA was extracted. The genotypes of G267C and G267C in MSX1 gene were determined by using MALDI-TOF-MS. P278S mutation was studied. Results The mutations of G267C (799G> T) and P278S (832C> T) were not found in the Guangdong population in this study. Conclusion The mutations of G267C and P278S in MSX1 gene coding region have no obvious correlation with NSCL / P in Guangdong population in China.