目的:了解DCDC2基因与汉族儿童阅读障碍的关系。方法:采用病例一对照研究方法,选取阅读障碍儿童76名,对照儿童79名。口腔黏膜拭子提取DNA,利用SnapshotSNP分型技术对155个样本DCDC2基因的两个SNP位点(外显子5rs2274305和外显子10rs6456593)进行遗传多态性研究。结果:①DCDC2基因rs2274305、rs6456593两个单核苷酸位点基因型分布及等位基因在阅读障碍儿童组与对照组之间差异均无统计学意义(P〉0.05)。②DCDC2基因各单倍型频率在阅读障碍组与对照组之间的差异无统计学意义(P〉0.05)。结论:DCDC2基因的2个SNP外显子5rs2274305和外显子10rs6456593两个位点的多态性可能不是影响汉语阅读障碍发生的遗传易感因素。
Objective : To investigate the association of DCDC2 polymorphisms with developmental dyslexia in children of Han pop- ulation. Methods: 76 dyslexic children and 79 non - dyslexic matched controls were collected and studied by case - control method. DNA samples from oral mucosal cell were isolated , and two DCDC2 gene coding - sequence single nucleotide polymorphisms, rs2274305 and rs6456593, in each sample were genotyped using Snapshot single nucleotide extension. Results: The differences in the genotype distribution and the allelic genes of the two single nucleotide luci of the DCDC2 gene, rs2274305 and rs6456593, between the dyslexic group and normal group were statistically meaningless ( P 〉 0. 05 ) . The differences in the haplotype distributions of the DCDC2 gene between the dyslexic group and normal group were statistically meaningless ( P 〉 0.05 ) . Conclusion: The DCDC2 gene may be not a susceptibility factor for de- velopmental dyslexia among the Han population.