Analysis between transforming growth factor beta3 gene sfaNI polymorphism variant and non-syndromic cleft lip with or without cleft palate in people of Uygur's nationality and Han's in Xinjiang / 生物医学工程学杂志

ABSTRACT

The present study was aimed to explore the relationship of transforming growth factor (TGF) beta3 gene SfaNI polymorphism (rs3917201 locus) and non-syndromic cleft lip with or without cleft palate (NSCL/P) in people of the Uygur's Nationality and Han's in Xinjiang, China. TGFbeta3 gene fragment including SfaNI was amplified and purified as the template of the primer extension reaction thenafter. The single base extension reaction was carried out u sing SNP specific extension primer. The products were purified and analyzed by MALDI-TOF. The test showed that there were not significantly different frequencies of AA, AG, GG genotypes and alleles between the whole NSCL/P group and the whole control group (P > 0.05). Within the Uygurs or Hans, the frequencies of genotypes between the whole NSCL/P group and the whole control group were not significantly different (P > 0.05). The distributions of the A, G alleles between the NSCL/P group and the control group were not significantly different within the Uygurs (P > 0.05), but significant different within the Hans (P < 0.05). In all the NSCL/P patients, frequencies of genotypes and alleles were not significantly different between Uygurs and Hans (P > 0.05), and not significantly different (P > 0.05) either between Uygurs and Hans in all the healthy persons. The results proved that TGFbeta3 gene SfaNI polymorphism may not be related to NSCL/P in Xinjiang Uygur people, while the occurrence of NSCL/P in Han population may be related to frequency of the A and G allele of SfaNI polymorphism.