中国汉族人群多巴胺转运体、多巴胺D2受体基因多态性及其与言语流畅性障碍的相关性  

Single nucleotide polymorphisms of DAT and DRD_2 genes in Han Chinese population and their association with stuttering

作　　者：潘春卉[1] 宋鲁平[2] 杜杰[1] 兰洁[1] 吴春眉[1] 吴立娟[3] 林岚 王嵬[1] 

机构地区：[1]中国科学院研究生院生命科学学院,北京100049 [2]北京博爱医院,北京100068 [3]首都医科大学,北京100069 [4]北京林教授言语训练中心,北京102600

出　　处：《南方医科大学学报》2009年第3期375-380,共6页Journal of Southern Medical University

基　　金：国家重点基础研究发展计划973计划课题(2005CB522804)

摘　　要：目的探讨言语流畅性障碍与多巴胺转运体基因(DAT)和多巴胺D2受体基因(DRD2)的相关性。方法通过病例对照研究,检测5个单核苷酸多态性位点(DAT基因的C252T,C1804T和C1820T;DRD2基因的T1054C,C1072T)在112名中国汉族口吃者和112名性别匹配的中国汉族对照中的分布情况,确定单核苷酸多态性对中国汉族人群言语流畅性障碍的作用。通过PCR-焦磷酸测序法进行基因分型。结果C1804T在病例组和对照组中不具有多态性,因此不进行后续的分析。C1072T的等位基因C在病例组中的分布频率显著高于对照组(等位基因T的基因频率显著低于对照组)。病例组中CC基因型频率显著高于对照组,而CT基因型频率明显低于对照组。C252T,C1820T和T1054C在病例组和对照组中的基因频率、基因型频率没有显著差异。结论研究结果表明,DRD2基因C1072T的等位基因C会增加中国汉族人群言语流畅性障碍发生的易感性,而等位基因T具有抵抗发病的保护作用。Objective To explore the correlations of dopamine transporter gene （DAT） and dopamine D2 receptor gene （DRD2） to stuttering. Methods To examine the correlations of the 5 single nucleotide polymorphisms （SNPs） in dopaminergic gene （C252T, C 1804T, and C1820T in DAT gene, and T1054C and C1072T in DRD2 gene） to stuttering in Han Chinese individuals, a case-control study involving 112 patients with stuttering and 112 gender-matched controls was carried out. Genotyping was performed by a combined approach using polymerase chain reaction （PCR） and pyrosequencing. Results C1804T showed no polymorphism in either the patients or the control subjects and was therefore excluded from the following analysis. The C allele frequency at C1072T site was significantly higher, but T allele frequency significantly lower in the stuttering group than in the control group. The patients had significantly higher CC and lower CT genotype frequencies than the control group. There were no significant differences in the allelic frequencies of C252T, C 1820T and T1054C between the patients and the controls, suggesting a Hardy-Weinberg equilibrium at these 3 loci. Conclusion The presence of the C allele at C1072T in DRD2 gene is associated with increased susceptibility to stuttering in Hart Chinese, whereas the T allele provides protection against the onset of stuttering.

关 键 词：病例对照研究 多巴胺转运体 多巴胺D2受体 言语流畅性障碍 口吃 单核苷酸多态性 

分 类 号：Q987[生物学—遗传学]