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。
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.
关键词
全面性发育落后 /
载脂蛋白E /
等位基因
Key words
generalized developmental delay /
apolipoprotein E /
allelic genes
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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]
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