中国儿童保健杂志 ›› 2018, Vol. 26 ›› Issue (10): 1081-1083.DOI: 10.11852/zgetbjzz2018-26-10-10

• 科研论著 • 上一篇    下一篇

ApoE基因多态性与全面性发育落后的相关性研究

刘黎礼1, 杨琳2, 王琼1, 陈小聪1, 马迎歌1   

  1. 1西安市儿童医院康复科,陕西 西安 710003;
    2 西安交通大学第二附属医院儿科,陕西 西安 710004
  • 收稿日期:2018-03-13 发布日期:2018-10-10 出版日期:2018-10-10
  • 通讯作者: 杨琳,E-mail:yr-1217@163.com
  • 作者简介:刘黎礼(1982-),女,河北人,主治医师,在读硕士,主要研究方向为小儿神经康复。
  • 基金资助:
    陕西省重点项目(2017SF-122);西安交通大学第二附属医院人才专项基金[RC(GG)201605]

Research on the association between ApoE genotype and global developmental delay

LIU Li-li1, YANG Lin2, WANG Qiong1, CHEN Xiao-cong1, MA Ying-ge1   

  1. 1 Xi′an Children′s Hospital,Xi′an,Shaanxi 710003,China;
    2 The Second Affiliated Hospital of Xi ′an Jiaotong University,Xi′an,Shaanxi 710004,China
  • Received:2018-03-13 Online:2018-10-10 Published:2018-10-10
  • Contact: YANG Lin,E-mail:yr-1217@163.com

摘要: 目的 分析婴幼儿ApoE 等位基因频率与全面性发育落后(GDD)患儿的相关性,为GDD患儿的病因预防、早期诊断、早期干预提供有效途径。 方法 从外周血中分离纯化DNA,利用PCR扩增和HhaⅠ酶切消化进行ApoE基因分型的方法对66例GDD患儿,50例正常儿童ApoE基因型进行测定,分析ApoE等位基因频率与GDD患儿的相关性。 结果 GDD组 ApoEε4等位基因携带者频率明显高于对照组(χ2 =5.05,P<0.05 )。 结论 ApoEε4等位基因携带患儿频率增高既与全面性发育落后相关,又可能是该疾病的一种遗传易感因子。

关键词: 全面性发育落后, 载脂蛋白E, 等位基因

Abstract: Objective To investigate the correlation between ApoE allele frequencies and generalized developmental delay(GDD) in children,in order to provide an effective way of etiological prevention,early diagnosis and intervention for children with GDD . Method Isolation and purification of DNA from peripheral blood,PCR amplication and Hha I digestion for the distribution of genotyping of ApoE were used to test the ApoE genotypes of 66 GDD children (GDD group) and 50 normal children (control group).Also,the correlation between ApoE allele frequencies and GDD was analyzed. Result The ApoEε4 allele frequency of GDD group was significantly higher than that of control group(χ2 =5.05,P<0.05). Conclusions The high frequency of ApoEε4 is associated with GDD,meantime it may be a genetic susceptibility factor for GDD children.

Key words: generalized developmental delay, apolipoprotein E, allelic genes

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