口腔医学研究

口腔医学研究 ›› 2017, Vol. 33 ›› Issue (2): 187-190.DOI: 10.13701/j.cnki.kqyxyj.2017.02.017

• 临床研究论著 • 上一篇    下一篇

THADA基因多态性与非综合征性唇腭裂的相关性研究

李冬梅1, 刘廷廷1, 孟祥彪1, 郝嫣汝1, 焦晓辉1, 吕克文1, 史金娜2, 郭嫱2, 宋涛1*   

  1. 1. 哈尔滨医科大学口腔医院口腔颌面外科 黑龙江 哈尔滨 150001;
    2. 哈尔滨医科大学附属第一医院科研科 黑龙江 哈尔滨 150001
  • 收稿日期:2016-08-01 出版日期:2017-02-20 发布日期:2017-02-22
  • 通讯作者: 宋涛,E-mail:stomfs@163.com
  • 作者简介:李冬梅(1989~ ),女,山东省菏泽人,硕士在读,医师,主要从事口腔颌面外科的临床工作。
  • 基金资助:
    黑龙江省教育厅科学技术研究项目 (编号:#11551183)

Association between THADA Gene Polymorphism and Nonsyndromic Cleft Lip with or without Cleft Palate.

LI Dong-mei1, LIU Ting-ting1, MENG Xiang-biao1, HAO Yan-ru1, JIAO Xiao-hui1, LV Ke-wen1, SHI Jin-na2, GUO Qiang2, SONG Tao1*   

  1. 1. Department of Stomatology, The First Affiliated Hospital, Harbin Medical University, Harbin 150001, China;
    2. Scientific Research Management Office, The First Affiliated Hospital, Harbin Medical University, Harbin 150001, China.
  • Received:2016-08-01 Online:2017-02-20 Published:2017-02-22

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(P＜0.05),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。

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

Abstract: Objective: To explore the association between three single nucleotide polymorphisms (SNPs) rs7590268, rs13035011 and rs6729902 of THADA gene and nonsyndromic cleft lip with or without cleft palate (NSCL/P) in the northern Chinese population. Methods: Multiple PCR and multiple ligase detection reaction were used to analyze three SNPs (rs7590268, rs13035011 and rs6729902) of THADA in 335 NSCL/P patients and 325 healthy individuals. Results: There were significant differences in rs7590268 and rs6729902 allelic distribution between cleft lip only and the control group (P<0.05). However, there were no significant differences in either genotypic or allelic distribution of rs13005011 between the patients and the controls. Conclusion: The SNPs of rs7590268 and rs6729902 in THADA gene may be associated with NSCL/P in the northern Chinese population.

Key words: Nonsyndromic cleft lip with or without cleft palate , Thyroid adenoma associated , Single nucleotide polymorphisms

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