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目的评估中国西北地区新疆维吾尔族人群中转化生长因子-α(Transforming grooth factor-α,TGF-α)基因多态性与非综合征性唇腭裂(NSCL/P)的相关性。方法用二代测序方法对TGF-α基因前500bp、5′非翻译区(UTR)和编码区进行测序,并选取100例新疆维吾尔族NSCL/P患者为病例组,60例健康人群为对照组,进行TGF-α基因检测分析。结果经过二代测序结果共发现2个单核苷酸多态性(SNP)高频突变位点(突变频率>5%)rs10198077和rs2166975。病例对照分析结果显示,以上2个位点等位基因及基因型频率在病例组与对照组间未见明显的分布差异,差异无统计学意义(P>0.05)。结论 TGF-α单核苷酸多态性与新疆维吾尔人群非综合征性唇腭裂发生无相关性。
Objective To evaluate the association of TGF-α gene polymorphism with non-syndromic cleft lip and palate (NSCL / P) in Xinjiang Uygur population in northwestern China. Methods The first 500bp and 5 ’untranslated region (UTR) and coding region of TGF-α gene were sequenced by second-generation sequencing. 100 cases of Uygur NSCL / P were selected as case group and 60 healthy people as control group , TGF-α gene detection analysis. Results Two SNPs mutation sites (mutation frequencies> 5%) rs10198077 and rs2166975 were found after second generation sequencing. Case-control analysis showed no significant difference in allele and genotype frequency between the two groups (P> 0.05). Conclusion There is no correlation between TGF-α SNP and non-syndromic cleft lip and palate in Xinjiang Uighur population.