THADA基因多态性与非综合征性唇腭裂的相关性研究

发布时间：2018-01-25 22:10

本文关键词： 非综合征性唇腭裂甲状腺瘤相关基因单核苷酸多态性　出处：《口腔医学研究》2017年02期 　论文类型：期刊论文

【摘要】：目的:探讨中国北方人群甲状腺腺瘤相关基因(THADA)rs7590268、rs13035011和rs6729902位点单核苷酸多态性(SNPs)与非综合征性唇腭裂(NSCL/P)的相关性。方法:应用聚合酶链式反应-连接酶检测反应(PCR-LDR)检测方法,在335例NSCL/P患者和525例健康体检者中,对THADA基因的rs7590268、rs13035011和rs6729902位点进行检测。结果:rs7590268和rs6729902多态性位点等位基因频率在唇裂组与对照组间的分布差异有统计学意义(P0.05),rs13035011位点基因型及等位基因频率在病例组和对照组间的分布差异无统计学意义。结论:THADA基因的rs7590268和rs6729902位点单核苷酸多态性可能与中国北方人群非综合征性唇腭裂的发生相关。
[Abstract]:Objective: to investigate the THADAA rs7590268 gene associated with thyroid adenoma in northern China. Single nucleotide polymorphisms (SNPs) at rs13035011 and rs6729902 loci and NSCL / P) in non-syndromic cleft lip and palate. Methods: polymerase chain reaction (PCR) and ligase assay (PCR LDR) were used. The rs7590268 of THADA gene was detected in 335 patients with NSCL/P and 525 healthy controls. Rs13035011 and rs6729902 loci were detected. Results:. The allelic frequencies of rs7590268 and rs6729902 polymorphism loci were significantly different between cleft lip group and control group (P < 0.05). P0.05). There was no significant difference in the distribution of rs13035011 genotypes and alleles between the two groups. The single nucleotide polymorphisms at rs7590268 and rs6729902 loci of THADA gene may be associated with the occurrence of non-syndromic cleft lip and palate in northern China.
【作者单位】：哈尔滨医科大学口腔医院口腔颌面外科;哈尔滨医科大学附属第一医院科研科;
【基金】：黑龙江省教育厅科学技术研究项目(编号:#11551183)
【分类号】：R782.2
【正文快照】： 非综合征性唇腭裂(NSCL/P)是一种常见的人类先天性发育畸形。世界平均发病率为1.43/1000[1],我国发病率较高为1.82/1000[2]。NSCL/P病因复杂,包括环境因素、遗传因素以及两者的相互作用[3,4]。Mangold等[5]在欧洲人群中以399名非综合征性唇腭裂患者和1318名对照组为对象进行全

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