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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-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Snapshot SNP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10 rs6456593)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5 rs2274305和外显子10 rs6456593两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 understand the relationship between DCDC2 gene and dyslexia in Han children. Methods: A case-control study was conducted in 76 children with dyslexia and 79 children in control group. Oral mucosal swabs were used to extract DNA. Two SNPs (exons 5rs2274305 and exon 10 rs6456593) of 155 DCDC2 genes were genotyped by Snapshot SNP. Results: ①The genotypes of rs2274305 and rs6456593 two SNPs in DCDC2 gene were not significantly different between the children with DR and the control group (P> 0.05). ② The haplotype frequency of DCDC2 gene was not significantly different between dyslexia group and control group (P> 0.05). CONCLUSION: The polymorphisms of rs2274305 and exon 10 rs6456593 of two SNPs in DCDC2 gene may not be the genetic predisposing factors for the Chinese dyslexia.