本文選題：非綜合征性唇腭裂 + 干擾素調(diào)節(jié)因子��； 參考：《新疆醫(yī)科大學(xué)》2015年碩士論文

【摘要】：目的:探討新疆地區(qū)維吾爾人群IRF6基因rs 7545538、rs7545542、rs2235373位點(diǎn)單核苷酸多態(tài)性與非綜合征性唇腭裂的相關(guān)性。方法:選擇新疆地區(qū)世居維吾爾族非綜合征性唇腭裂患者100例,對(duì)照組為60例因上呼吸道感染而住院的新疆籍維吾爾族兒童,收取其靜脈血,用新一代測(cè)序方法對(duì)目標(biāo)區(qū)域測(cè)序,進(jìn)行遺傳學(xué)分析。結(jié)果:在新疆維吾爾人群中,rs7545538位點(diǎn)CC基因型(P=0.037)和C等位基因(P=0.007)、rs7545542位點(diǎn)C等位基因(P=0.044)和rs2235373位點(diǎn)G等位基因(P=0.049)與NSCL/P有關(guān)聯(lián);對(duì)以上3個(gè)SNPs進(jìn)行連鎖不平衡分析,未能證實(shí)存在連鎖不平衡(r20.8)。結(jié)論:新疆維吾爾人群IRF6基因rs7545538、rs7545542、rs2235373位點(diǎn)SNPs可能與新疆維吾爾族人群唇腭裂發(fā)病可能存在相關(guān)性。
[Abstract]:Objective: to investigate the association of rs7545538rs7545542rs2235373 single nucleotide polymorphism with non-syndromic cleft lip and palate in Uygur population in Xinjiang. Methods: 100 cases of non-syndromic cleft lip and palate in Xinjiang Uygur nationality and 60 children of Xinjiang Uygur nationality who were hospitalized with upper respiratory tract infection were selected and their venous blood was collected. The target region was sequenced by a new generation sequencing method and genetic analysis was carried out. Results: in Xinjiang Uygur population, rs7545538 CC genotype (Pn0.037), C allele (P0. 007), rs7545542 locus C allele (P0. 044) and rs2235373 locus G allele (P0. 049) were associated with NSCL rp. The linkage disequilibrium was not proved (r20.8). Conclusion: SNPs at rs7545538rs7545542rs2235373 in Xinjiang Uygur population may be associated with 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】：2015
【分類號(hào)】：R782.2

【參考文獻(xiàn)】

相關(guān)期刊論文 前1條

1 賴淑蘋(píng),任惠民,胡海濤,李生斌,賴江華,閆春霞,張洪波,趙均海;中國(guó)西北地區(qū)漢、回、維、藏民族HLA-DRB基因多態(tài)性的研究[J];遺傳學(xué)報(bào);1999年05期

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本文編號(hào)：2100659