抽动秽语综合征4个炎症因子基因SNP位点家系传递不平衡分析  

GENEALOGY TRANSMISSION DISEQUILIBRIUM TEST FOR FOUR INFLAMMATORY-FACTOR GENE IN TOURETTE SYNDROME

作　　者：王美建[1] 王修海[1] 王培林[1] 刘世国[2] 尹营营[3] 

机构地区：[1]青岛大学医学院生物学教研室,山东青岛266021 [2]青岛大学医学院附属医院痛风实验室,山东青岛266021 [3]青岛大学医学院心理学与精神病学教研室,山东青岛266021

出　　处：《齐鲁医学杂志》2012年第5期432-433,436,共3页Medical Journal of Qilu

摘　　要：目的探讨炎症因子白细胞介素(IL)-8、IL-10、IL-12B、肿瘤坏死因子-α(TNF-α)基因在抽动秽语综合征(TS)发病中的作用。方法利用聚合酶链式反应-限制性片段长度多态性方法,对128个中国汉族TS病人核心家系共计384例样本的IL-8-251A/T、IL-10-592A/C、IL-12B1188A/C和TNF-α-238A/G单核苷酸多态性(SNP)位点进行基因分型。利用传递不平衡检验(TDT)和单体型相对风险(HRR)分析来评价这些SNP位点的TS发病风险。结果 TDT显示所有SNP位点在病人中都不存在传递不平衡,HRR分析也没有发现明显具有TS易感性的等位基因或基因型。结论在中国汉族人群中,TS可能与IL-8、IL-10、IL-12B、TNF-α基因不存在关联。Objective To explore the role of inflammatory cytokines IL-8, IL 10, IL-12B and TNF-ain Tourette syn-drome （TS）. Methods A total of 128 patients of Han people in China diagnosed with TS and their parents were recruited in this study. TheIL-8-251A/T, IL-10-592A/C, IL-12Bl188A/CandTNFa-238A/（;weregenotyped by polymerase chain reaction and restriction enzyme digestion （PCR-RFLP）. By using transmission disequilibrium test （TDT） and haplotype relative risk （HRR） analysis, the risk of the occurrence of TS was assessed. Results The TDT showed that there was no transmission disc quilibrium in SNP site, and HRR analysis was also no TS sensitive allele or genotype was noted. Conclusion The IL-8, IL-10, IL-12B and TNF-agenes may not be associated with TS susceptibility in Han population in China.

关 键 词：多动秽语综合征 白细胞介素类 肿瘤坏死因子α 多态性 单核苷酸 

分 类 号：R394.3[医药卫生—医学遗传学]