ApoE基因多态性与全面性发育落后的相关性研究  

Research on the association between ApoE genotype and global developmental delay

作　　者：刘黎礼[1] 杨琳[2] 王琼 陈小聪[1] 马迎歌[1] LIU Li-li;YANG Lin;WANG Qiong;CHEN Xiao-cong;MA Ying-ge(Xi＇an Children＇s Hospital,Xi＇an,Shaanxi 710003,China;The Second Affiliated Hospital of Xi＇an Jiaotong University,Xi＇an,Shaanxi 710004,China)

机构地区：[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

出　　处：《中国儿童保健杂志》2018年第10期1081-1083,共3页Chinese Journal of Child Health Care

基　　金：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]

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。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.Methods 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. ResultThe ApoEε4 allele frequency of GDD group was significantly higher than that of control group（χ2=5.05,P〈0.05）. Conclusion The high frequency of ApoEε4 is associated with GDD,meantime it may be a genetic susceptibility factor for GDD children.

关 键 词：全面性发育落后 载脂蛋白E 等位基因 

分 类 号：R179[医药卫生—妇幼卫生保健]