中华精神科杂志
中華精神科雜誌
중화정신과잡지
CHINESE JOURNA OF PSYCHIATRY
2014年
5期
265-268
,共4页
何凡%黄环环%程宇航%梁月竹%崔永华%杨建红%贾军朴%郑毅
何凡%黃環環%程宇航%樑月竹%崔永華%楊建紅%賈軍樸%鄭毅
하범%황배배%정우항%량월죽%최영화%양건홍%가군박%정의
多动秽语综合征%受体,多巴胺%多态性,单核苷酸%传递不平衡分析
多動穢語綜閤徵%受體,多巴胺%多態性,單覈苷痠%傳遞不平衡分析
다동예어종합정%수체,다파알%다태성,단핵감산%전체불평형분석
Tourette syndrome%Receptors,dopamine%Polymorphism,single nucleotide%Transmission disequilibrium test
目的 探讨图雷特综合征(Tourette syndrome,TS)与多巴胺D2受体(dopamine D2 receptor,DRD2)基因单核苷酸多态性(single nucleotide polymorphism,SNP)位点rs 1800497是否存在关联.方法 采用DSM-Ⅳ中TS诊断标准进行诊断.应用TaqMan探针SNP基因分型技术,对106例TS患者(患者组)和TS患者的212名未患病父母(父母组)的DRD2基因SNP位点rs1800497进行基因分型;采用遗传分析统计软件Plink 1.07进行传递不平衡检验,评估TS是否与该研究位点存在关联.结果 患者组与父母组DRD2基因SNP位点rs1800497存在传递不平衡现象(OR=1.556,95% CI:1.145 ~2.036),两组比较差异有统计学意义(x2=4.348,P=0.037).结论 DRD2基因SNP位点rs1800497多态性可能与TS存在关联,需扩大样本量进一步系统研究.
目的 探討圖雷特綜閤徵(Tourette syndrome,TS)與多巴胺D2受體(dopamine D2 receptor,DRD2)基因單覈苷痠多態性(single nucleotide polymorphism,SNP)位點rs 1800497是否存在關聯.方法 採用DSM-Ⅳ中TS診斷標準進行診斷.應用TaqMan探針SNP基因分型技術,對106例TS患者(患者組)和TS患者的212名未患病父母(父母組)的DRD2基因SNP位點rs1800497進行基因分型;採用遺傳分析統計軟件Plink 1.07進行傳遞不平衡檢驗,評估TS是否與該研究位點存在關聯.結果 患者組與父母組DRD2基因SNP位點rs1800497存在傳遞不平衡現象(OR=1.556,95% CI:1.145 ~2.036),兩組比較差異有統計學意義(x2=4.348,P=0.037).結論 DRD2基因SNP位點rs1800497多態性可能與TS存在關聯,需擴大樣本量進一步繫統研究.
목적 탐토도뢰특종합정(Tourette syndrome,TS)여다파알D2수체(dopamine D2 receptor,DRD2)기인단핵감산다태성(single nucleotide polymorphism,SNP)위점rs 1800497시부존재관련.방법 채용DSM-Ⅳ중TS진단표준진행진단.응용TaqMan탐침SNP기인분형기술,대106례TS환자(환자조)화TS환자적212명미환병부모(부모조)적DRD2기인SNP위점rs1800497진행기인분형;채용유전분석통계연건Plink 1.07진행전체불평형검험,평고TS시부여해연구위점존재관련.결과 환자조여부모조DRD2기인SNP위점rs1800497존재전체불평형현상(OR=1.556,95% CI:1.145 ~2.036),량조비교차이유통계학의의(x2=4.348,P=0.037).결론 DRD2기인SNP위점rs1800497다태성가능여TS존재관련,수확대양본량진일보계통연구.
Objective To explore the difference of rs1800497 of single nucleotide polymorphism (SNP) of dopamine D2 receptor(DRD2)gene genotype and allele frequency in Tourette syndrome(TS) patients and their parents in Chinese Han population.Methods In this study,the rs1800497 polymorphism of the DRD2 gene was genotyped by TaqMan SNP genotyping assay technique.Transmission disequilibrium test(TDT) was employed for statistical analysis with the genetic analysis statistic software of Plink 1.07.TS was diagnosed with the Diagnostic and Statistical Manual of Mental Disorder,the Forth Edition(DSM-Ⅳ) diagnostic criteria for TS.Results TDT analysis showed transmission disequilibrium of rs1800497 polymorphism of SNP in DRD2 gene (OR =1.556,95% CI:1.145-2.036; x2 =4.348,P =0.037).Conclusion TDT study shows that TS could have relationship with rs1800497 polymorphism of SNP in DRD2 gene.It should be verified by making larger samples in future study.