新疆人群TGF-α基因多态性和非综合征性唇腭裂风险易感性相关性研究

发布时间：2018-04-03 14:21

本文选题：颅面异常非综合征唇腭裂　切入点：TGF-α　出处：《新疆医科大学》2017年硕士论文

【摘要】：目的:为了研究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500 bp、5’非翻译区(UTR)和编码区进行测序,并选取100例新疆维吾尔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,这两个位点是无论是病例组还是对照组在各个位点比较并没有发现重大异常和相似度,因此这一的重大异常并无统计意义(P0.05)。结论:TGF-α单核苷酸多态性在新疆维吾尔人群中非综合征性唇腭裂发生中无相关性。
[Abstract]:Objective: to study the association between transforming grooth factor- 伪 (TGF- 伪) gene polymorphism and non-syndromic cleft lip and palate (NSCL/P) in Xinjiang Uygur population in Northwest China.Methods: TGF- 伪 gene was sequenced in the first 500bp5'untranslated region and coding region by second-generation sequencing. TGF- 伪 gene was detected by TGF- 伪 gene analysis in 60 healthy controls and 100 Uygur NSCL/P patients in Xinjiang.Results: two high frequency mutation sites (5%)rs10198077 and rs2166975) were found in the second generation sequencing.The results of case-control analysis showed that there was no significant abnormality and similarity between the two loci in both the case group and the control group, so the significant abnormality had no statistical significance (P 0.05).Conclusion the single nucleotide polymorphism of TGF- 伪 has no correlation with non-syndromic cleft lip and palate in Xinjiang Uygur population.
【学位授予单位】：新疆医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R782.2

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