本文選題：顱面異常非綜合征唇腭裂　切入點(diǎn)：TGF-α　出處：《新疆醫(yī)科大學(xué)》2017年碩士論文

【摘要】：目的:為了研究中國(guó)西北地區(qū)新疆維吾爾族人群中轉(zhuǎn)化生長(zhǎng)因子-α(Transforming grooth factor-α,TGF-α)基因多態(tài)性與非綜合征性唇腭裂NSCL/P的相關(guān)性。方法:用二代測(cè)序方法對(duì)TGF-α基因前500 bp、5’非翻譯區(qū)(UTR)和編碼區(qū)進(jìn)行測(cè)序,并選取100例新疆維吾爾NSCL/P患者為病例組,60例健康人群為對(duì)照組,進(jìn)行TGF-α基因檢測(cè)分析。結(jié)果:經(jīng)過二代測(cè)序結(jié)果共發(fā)現(xiàn)2個(gè)單核苷酸多態(tài)性(SNP)高頻突變位點(diǎn)(突變頻率5%)rs10198077和rs2166975。病例對(duì)照分析結(jié)果顯示,這兩個(gè)位點(diǎn)是無論是病例組還是對(duì)照組在各個(gè)位點(diǎn)比較并沒有發(fā)現(xiàn)重大異常和相似度,因此這一的重大異常并無統(tǒng)計(jì)意義(P0.05)。結(jié)論:TGF-α單核苷酸多態(tài)性在新疆維吾爾人群中非綜合征性唇腭裂發(fā)生中無相關(guān)性。
[Abstract]:Objective: to study the association between transforming grooth factor- 偽 (TGF- 偽) gene polymorphism and non-syndromic cleft lip and palate (NSCL/P) in Xinjiang Uygur population in Northwest China.Methods: TGF- 偽 gene was sequenced in the first 500bp5'untranslated region and coding region by second-generation sequencing. TGF- 偽 gene was detected by TGF- 偽 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- 偽 has no correlation with non-syndromic cleft lip and palate in Xinjiang Uygur population.
【學(xué)位授予單位】：新疆醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2017
【分類號(hào)】：R782.2

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本文編號(hào)：1705572