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  

Association between TGF-α gene and non-syndromic cleft lip and palate in Xinjiang Uyghur population

作　　者：姜智馨 古丽[1] 努尔古力.加尼木汗 阿地力.莫明[1] JIANG Zhixin GU Li AdiliMoming Nuerguli Jianimuhan(Department of Maxillofacial Surgery, the First Affiliated Hospital, Xinjiang Medical Unversity Urumqi 830054, China Depatment of Stomatology, the People＇s Hospital of Emin City, Tacheng 834600, China)

机构地区：[1]新疆医科大学第一附属医院颌面外科,乌鲁木齐830054 [2]额敏县人民医院口腔科,新疆塔城834600

出　　处：《新疆医科大学学报》2017年第4期474-476,共3页Journal of Xinjiang Medical University

基　　金：国家自然科学基金(81260163)

摘　　要：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 investigate the correlation between transforming growth factor-α（TGF-α）gene and nonsyndromic cleft lip with or without cleft palate in Xinjiang Uyghur.Methods Sixty cases of non-syndromic cleft lip and/or cleft palate of Xinjiang Uyghur nationality were selected as case group and 60 healthy people as control group.The peripheral venous blood was collected and the DNA was extracted.The second generation of TGF-500 bp,5′untranslated region（UTR）and coding region were sequenced for genetic analysis.Results Two single nucleotide polymorphisms（SNPs）with high mutation frequency（〉5%）were found in rs10198077 and rs2166975.The results of case-control analysis showed that there was no significant difference in allele and genotype frequencies between the two groups（P〉0.05）.Conclusion There is no correlation between TGF-αsingle nucleotide polymorphisms and nonsyndromic cleft lip and palate in Xinjiang Uyghur population.

关 键 词：颅面异常非综合征性唇腭裂 TGF-Α 二代测序 维吾尔族人群 

分 类 号：R726.2[医药卫生—儿科]