新疆维吾尔族和汉族人非综合征型唇腭裂与转化生长因子β3基因SfaNI多态性的分析

Analysis between Transforming Growth Factor β3 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

本研究探讨新疆维吾尔族、汉族转化生长因子β3(TGFβ3)基因SfaNI多态性与非综合征性唇腭裂(NSCL/P)的关系。经PCR扩增出TGFβ3基因SfaNI片段作为模板,加入SNP序列特异延伸引物进行单碱基延伸反应,产物纯化后利用飞行时间质谱技术对SfaNI多态性进行检测。结果显示:NSCL/P组与对照组基因型及等位基因频率分布差异均无统计学意义(P>0.05);维、汉两民族内,NSCL/P组和对照组基因型频率分布差异均无统计学意义(P>0.05),等位基因A、G的频率分布在维吾尔族内两组间无差异(P>0.05),在汉族内两组间差异有统计学意义(P<0.05);无论是NSCL/P患者还是健康人群,在维、汉两民族间基因型和等位基因频率的分布差异均无统计学意义(P>0.05)。本研究表明新疆维吾尔族NSCL/P与TGFβ3基因的SfaNI多态性无关,而汉族NSCL/P的发生可能与TGFβ3基因的SfaNI等位基因A、G的频率有关。

The present study was aimed to explore the relationship of transforming growth factor （TGF） β3 gene Sfa NI 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. TGFβ3 gene fragment including SfaNI was amplified and pu rifled 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 significantlydifferent （P〉0.05） either between Uygurs and Hans in all the healthy persons. The results proved that TGFβ3 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.