FOXP2基因多态性与功能性构音障碍的关系

摘要

目的 探讨FOXP2基因多态性与功能性构音障碍(FAD)的关系.方法 选择轻度FAD患儿42例(轻度FAD组)、中重度FAD患儿108例(中重度FAD组),同期选择140例正常健康体检者作为对照组.采用PCR-RFLP结合直接测序法测定各组FOXP2基因5′调控区3个单核苷酸多态位点(SNPs) rs923875、rs1852469和rs2396722的等位基因和基因型频率,同时构建单倍型.结果 轻度FAD组rs1852469位点4例,对照组rs2396722位点2例、rs1852469位点3例样本未能成功分型.其余FOXP2基因3个SNPs的等位基因和基因型频率均符合Hardy-Weinberg平衡定律.中重度FAD组rs1852469位点的等位基因及基因型频率与正常对照组比较有明显统计学意义(P＜0.05).单倍型rs923875A/+rs2396722T/+rs1852469T在中重度FAD组的频率显著高于正常对照组(P＜0.05).单倍型rs923875C/+ rs2396722C/+ rs1852469A在正常对照组的频率显著高于中重度FAD组,为保护性单倍型(P＜0.05).结论 FOXP2基因可能与中重度FAD有关；含有rs923875A/+ rs2396722T/+ rs1852469T单倍型的个体发生FAD的相对风险较高.%Objective To investigate the association between the FOXP2 gene and functional articulation disorders. Methods 42 cases of mild function articulation disorders, 108 cases of moderate to severe functional articulation disorders and 140 cases of healthy unrelated controls of similar ethnic background were recruited. Three single nucleotide polymor-phisms (SNPs) rs923875, rs2396722, rsl852469 in the FOXP2 gene were selected. PCR was performed and the products were digested with restriction enzymes ApalI, VspⅠ, TrulⅠ respectively. The comparisons of allelic frequencies and geno-type analyses between patients and controls were performed using SHEsis program online. The haplotype analysis were also considered. Results Neither genotype nor allele frequency distribution of mild patients was different from control subjects. There were significant differences in the genotype and allele ( all P <0.05) frequencies of SNP rsl852469 between moder-ate to severe functional articulation disorer and controls. A risk haplotype was detected, rs923875A/ + rs2396722T/ + rsl852469T (P <0.05) which was significantly associated to moderate to severe patients. Alternatively, a protective haplo-type rs923875C/ + rs2396722C/ + rsl 852469A ( P < 0.05) was also identified. Conclusions There is an association be-tween SNP rsl852469 and moderate to severe functional articulation disorders. The individuals with haplotype rs923875A/ + rs2396722T/ +rsl852469T are more susceptible to functional articulation disorders.