武汉大学口腔医院选派出国博士后在唇腭裂致病基因功能性研究取得新进展揭示唇腭裂基因突变致病分子机制

发布时间：2018-03-01 04:27

  本文关键词： 功能性研究 syndromic 人类染色体 heterogeneity 易感位点 刘欢 Genome cleft 美国爱荷华大学 基因突变 　出处：《口腔医学研究》2017年08期 　论文类型：期刊论文

【摘要】：正武汉大学口腔医院选派到美国爱荷华大学(University of Iowa)的博士后刘欢医师对唇腭裂GWAS研究功能性解析取得进展,成果以"Identification of common non-coding variants at 1p22that are functional for non-syndromic orofacial clefting"(《非综合征型唇腭裂位于人类染色体1p22区段功能性致病常见突变鉴定》)为题,于2017年3月13日在Nature Communications(自然通讯)杂志在线发表。这是我院研究人员继边专教授团队于上月在Nature Communications(自然通讯)发表"Genome-wide analyses of non-syndromic cleft lip with palate identify fourteen novel loci and genetic heterogeneity"《非综合征型唇腭裂全基因组关联分析发现了14个新的易感位点和遗传异质性》)之后,在唇腭裂研究领域取得的又一重要进展。
[Abstract]:Dr. Liu Huan, a postdoctoral candidate from the Stomatology Hospital of Wuhan University, has made progress in functional analysis of cleft lip and palate GWAS. The results were based on "Identification of common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting". Published online on March 13th 2017 in the journal Nature communications. This is the publication of "Genome-wide analyses of non-syndromic cleft lip with palate identify fourteen novel loci and genetic heterogeneity" in Nature Communications last month by a team of researchers from our hospital. The whole genome association analysis of cleft lip and palate revealed 14 new susceptibility loci and genetic heterogeneity. Another important progress has been made in the field of cleft lip and palate.
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