KIAA0319基因与汉族儿童阅读障碍的关联性研究  

KIAA 0319 Gene Polymorphisms are Associated with Developmental Dyslexia in Han Children

作　　者：赵华[1] 刘瑞芳[1] 姚水洪[1] 左彭湘[2] Zhao Hua;Liu Ruifang;Yao Shuihong;Zuo Pengxiang(不详;Medical School,Quzhou College of Technology,Quzhou,324000,China)

机构地区：[1]衢州职业技术学院医学院,衢州324000 [2]石河子大学医学院

出　　处：《听力学及言语疾病杂志》2023年第6期522-526,共5页Journal of Audiology and Speech Pathology

基　　金：浙江省衢州市科技计划项目(2021K32)。

摘　　要：目的研究KIAA0319基因与汉族儿童发展性阅读障碍的关系,为疾病的筛查和干预提供依据。方法采用病例对照研究方法,选取汉族阅读障碍儿童168例,控制混杂因素后选择健康对照儿童168例,一次性口腔黏膜拭子采集DNA,利用多重SNP分型试剂盒对KIAA0319基因的4个SNPs位点(rs4504469、rs3212236、rs6935076、rs3756821)进行遗传多态性研究。结果KIAA0319基因位点rs6935076、rs3756821、rs3212236的等位基因频率和基因型频率在阅读障碍组和健康对照组之间的差异有统计学意义(P<0.05);经Bonferrion校正检验后,位点rs6935076的等位基因频率(P=0.023)、rs3756821的等位基因(P=0.015)和基因型频率(P=0.010)仍有显著差异;多个位点间的连锁分析形成1个单倍域,其中“CCC”和“TTT”单倍体与阅读障碍儿童具有显著关联(P<0.05)。结论KIAA0319基因是汉族儿童阅读障碍的遗传易感因素。Objective To investigate the association of KIAA 0319 polymorphisms and developmental dyslexia in individuals of Han descent,and provide a strong basis for prevention and intervention of dyslexia disease.Methods A case-control study was conducted.After controlling for confounding factors,a total of 168 Han dyslexia children and 168 healthy children were selected.DNA was collected using a disposable oral mucosal swab,then a multiple SNP scan kit was used to genotype 4 single-nucleotide polymorphisms of KIAA 0319,such as rs4504469,rs3212236,rs6935076 and rs3756821.Results In single analysis of allele and genotype frequencies,three SNPs(rs3212236,rs6935076,rs3756821)were significant different between children in dyslexia group and control group.After Bonferrion calibration,the allele frequency of rs6935076(P=0.023),allele frequency of rs3756821(P=0.015)and genotype frequency of rs3756821(P=0.010)were significantly different.The linkage disequilibrium analysis showed one block within gene KIAA 0319,only two(CCC and TTT)haplotype in block 1 was significantly more common in dyslexia children than in controls.Conclusion This study indicates that genetic polymorphisms of KIAA 0319 are associated with an increased risk of developmental dyslexia in the Han population.

关 键 词：汉族 阅读障碍 KIAA0319基因 多态性 

分 类 号：R729[医药卫生—儿科]