中国人群非综合征性唇腭裂患者IRF6基因突变检测

中国口腔颌面外科杂志 ›› 2014, Vol. 12 ›› Issue (4): 333-336.

中国人群非综合征性唇腭裂患者IRF6基因突变检测

陈嘉珮¹, 牛振民², 乌丹旦³, 杨育生³, 黄薇², 陈振琦¹

1.上海交通大学医学院附属第九人民医院·
口腔医学院口腔正畸科, 上海市口腔医学重点实验室,上海 200011;
2.上海市疾病与健康基因组学实验室-省部共建国家重点实验室培育基地, 国家人类基因组南方研究中心,上海 201203;
3.上海交通大学医学院附属第九人民医院·
口腔医学院口腔颅颌面科, 上海市口腔医学重点实验室,上海 200011

收稿日期:2013-12-21 出版日期:2014-07-10 发布日期:2014-08-20
通讯作者: 陈振琦,E-mail:orthochen@yeah.net
作者简介:陈嘉珮(1982-),女,在读硕士研究生,E-mail:xtinechen@hotmail.com
基金资助:
上海市科学技术委员会科研计划项目(124119b0103)

Detection of IRF6 gene mutations in Chinese population with non-syndromic cleft lip and/or cleft palate

CHEN Jia-pei¹, NIU Zhen-min², WU Dan-dan³, YANG Yu-sheng³, HUANG Wei², CHEN Zhen-qi

1.Department of Orthodontics,Ninth people’s Hospital, College of Stomatology, Shanghai Jiao Tong University School of Medicine, Shanghai Key Laboratory of Stomatology. Shanghai 200011;
2.Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center. Shanghai 201203;
3.Department of Oral and Craniomaxillofacial Science, Ninth People’s Hospital, College of Stomatology, Shanghai Jiao Tong University School of Medicine;
Shanghai Key Laboratory of Stomatology. Shanghai 200011, China

Received:2013-12-21 Online:2014-07-10 Published:2014-08-20
Supported by:
Supported by Research Fund of Science and Technology Committee of Shanghai Municipality (124119b0103)

摘要/Abstract

摘要： 目的探讨干扰素调节因子6(interferon regulatory factor 6, IRF6) 在非综合征性唇腭裂(non-sydromic cleft lip and/or cleft palate,NSCL/P)患者中的突变情况。方法：收集119例NSCL/P患者及288名健康人对照样本的外周血血样并提取DNA。在IRF6基因的全部外显子分别设计引物,PCR扩增其序列,通过测序找出IRF6基因突变,并将这些突变在对照样本中进行验证。结果：共发现5种在正常人中没有的突变,其中4种是新发现的突变。结论：IRF6基因突变在中国人群中参与了非综合征唇腭裂疾病的发生。

关键词: 非综合征性唇腭裂, 干扰素调节因子6基因, 基因突变

Abstract: PURPOSE: To investigate interferon regulatory factor 6 gene (IRF6) mutation in Chinese non-syndromic cleft lip and/or cleft palate (NSCL/P) patients. METHODS: The peripheral blood of NSCL/P cases and control samples were collected and DNA was extracted. Exons of IRF6 gene were amplified by polymerase chain reaction. IRF6 mutations were detected using direct sequencing and compared with control samples. RESULTS: Five mutations were discovered in patients with NSCL/P, including 4 novel mutations. CONCLUSIONS: Mutation of IRF6 gene involved in the occurrence of NSCL/P in Chinese population.

Key words: Non-syndromic cleft lip and/or cleft palate, NSCL/P, Interferon regulatory factor 6 gene, IRF6, Gene mutation

中图分类号:

R783.5

陈嘉珮, 牛振民, 乌丹旦, 杨育生, 黄薇, 陈振琦. 中国人群非综合征性唇腭裂患者IRF6基因突变检测[J]. 中国口腔颌面外科杂志, 2014, 12(4): 333-336.

CHEN Jia-pei, NIU Zhen-min, WU Dan-dan, YANG Yu-sheng, HUANG Wei, CHEN Zhen-qi. Detection of IRF6 gene mutations in Chinese population with non-syndromic cleft lip and/or cleft palate[J]. China J Oral Maxillofac Surg, 2014, 12(4): 333-336.

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