中国儿童保健杂志 ›› 2016, Vol. 24 ›› Issue (1): 19-21.DOI: 10.11852/zgetbjzz2016-24-01-06

• 科研论著 • 上一篇    下一篇

深圳地区汉族儿童维生素D受体基因Bsm I和Fok I位点多态性调查

汪月娟1,鲁衍强2,李慧娟1,李瑛2,朱萍2,陈春宝3   

  1. 1 深圳远东妇儿科医院,广东 深圳 518000;
    2 上海靶向分子医学研究所,上海 200433;
    3 海南主健细胞分子遗传医学检验中心,海南 海口 570206
  • 收稿日期:2015-06-04 发布日期:2016-01-01 出版日期:2016-01-01
  • 通讯作者: 鲁衍强,E-mailluyanqiang@genechina.com
  • 作者简介:汪月娟(1980-),女,博士研究生,主要研究方向为小儿内科。
  • 基金资助:
    深圳市科技创新委员会项目基金(JCYJ20140416151506444)

Polymorphism of vitamin D receptor gene Bsm I and Fok I of the Han nationality children in Shenzhen city.

WANG Yue-juan1,LU Yan-qiang2,LI Hui-juan1,LI Ying2,ZHU Ping2,CHEN Chun-bao3.   

  1. 1 Shenzhen Yuandong Maternal and Child Health Hospital,Shenzhen,Guangdong 518000,China;
    2 Institute of Targeted Therapy and Molecular Medicine of Shanghai,Shanghai 200433,China;
    3 Hainan Zhujian Center for Molecular Cytogenetic Clinical Testing,Haikou,Hainan 570206,China Corresponding author:LU Yan-qiang,E-mail:luyanqiang@genechina.com
  • Received:2015-06-04 Online:2016-01-01 Published:2016-01-01
  • Contact: LU Yan-qiang,E-mailluyanqiang@genechina.com

摘要: 目的 了解深圳地区汉族儿童维生素D受体(VDR)基因Bsm I和Fok I位点的多态性分布特点,为提高儿童科学补钙的依从性并促进儿童生长发育。方法 应用荧光定量PCR方法,检测233名深圳地区汉族儿童的VDR基因Bsm I和Fok I位点多态性,分析各基因型和等位基因频率分布,并与已报道的其他地区的数据进行比较。结果 本研究人群VDR Bsm I位点bb、Bb、BB基因型的分布频率分别为88.4%、11.6%、0,b、B等位基因频率分别为95.0%和5.0%;VDR Fok I位点ff、Ff、FF基因型的分布频率分别为18.6%、52.0%、29.4%,f、F等位基因频率分别为55.8%和44.2%。结论 深圳地区汉族儿童VDR Bsm I和VDR Fok I位点各基因型和等位基因的频率分布特征与已报道的上海、江苏地区差异有统计学意义。

关键词: 维生素D受体, 基因多态性, 汉族

Abstract: Objective To explore the polymorphism distribution of vitamin D receptor(VDR)gene Bsm I and Fok I in Han nationality children in Shenzhen,improve the compliance of children's scientific calcium and promote children's growth and development. Methods A total of 233 Han nationality children were recruited and collected oral epithelial cells.Genome DNA for fluorescence quantitative PCR to detect SNPs of Bsm I and Fok I were extracted.The Results were compared with the distribution frequencies of Bsm I and Fok I in other regions. Results The frequencies of Bsm I ( bb,Bb,BB ) in Han nationality children were 88.4%,11.6%,0 in Shenzhen,respectively.The frequency of Fok I ( ff,Ff,FF ) in Han nationality children were 18.6%,52.0%,29.4% in Shenzhen respectively. Conclusion Bsm I and Fok I polymorphism distribution in Han nationality children of Shenzhen city exhibit the own characteristics.

Key words: vitamin D receptor, gene polymorphism, Han nationality

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