Objective To investigate the relationship between muscle segment homeobox(MSX) 1 and non-syndromic cleft lip with and without cleft palate(NSCL/P) in Xinjiang Uyghur population. Methods One hundred Uyghur NSCL/P patients from Xinjiang were included as the case gruop and 60 healthy individuals as the control group. Next generation sequencing was used to detect 500 bp around gene, 5’ untranslated region(UTR) and coding region of MSX 1. Results Five single nucleotide polymorphisms were found: rs36059701, rs80120240, rs1042484, rs34165410, rs8670. The genotype distribution and the frequency of alleles were no significant difference in case group and control group(P>0.05) and significant evidence of linkage disequilibrium were not found in the 5 loci(r2
