中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2013年
5期
594-597
,共4页
郑兰兰%韩振靓%张心华%王学芹%姜韦华%衣明纪%刘世国
鄭蘭蘭%韓振靚%張心華%王學芹%薑韋華%衣明紀%劉世國
정란란%한진정%장심화%왕학근%강위화%의명기%류세국
Tourette综合征%多巴胺转运体基因%可变串联重复序列多态性%传递不平衡分析%单倍型相对风险分析
Tourette綜閤徵%多巴胺轉運體基因%可變串聯重複序列多態性%傳遞不平衡分析%單倍型相對風險分析
Tourette종합정%다파알전운체기인%가변천련중복서렬다태성%전체불평형분석%단배형상대풍험분석
Tourette syndrome%Dopamine transporter gene%Variable number of tandem repeat polymorphism%Transmission disequilibrium test%Haplotype relative risk
目的 探讨中国汉族群体Tourette综合征(Tourette syndrome,TS)患者与多巴胺转运体(dopamine transporter gene,DAT1)基因3'非翻译区域的40 bp可变串联重复序列(variable number of tandem repeat,VNTR)多态性的相关性.方法 应用聚合酶链反应-可变重复串联序列多态性分析技术对160个TS核心家系(患者及其父母)DAT1基因40bp VNTR多态性进行基因分型,应用传递不平衡分析(transmission disequilibrium test,TDT)和单倍型相对风险分析(haplotype relative risk,HRR)进行统计分析.结果 所测人群中DA T1基因的40bp VNTR多态性重复次数分别为11、10、9、7.5、7,其中10次重复最为常见.DA T1基因的40bp VNTR多态性(10次重复序列)与TS发病没有明显关系(TDT:x2=0.472,df=1,P=0.583;HRR:x2=0.313,P=0.576,OR=0.855,95％CI:0.493～1.481).结论 DAT1基因的40bp VNTR多态性可能不是汉族人群TS发病的易感基因位点,但仍需进一步扩大样本,选择不同种族人群和更多位点验证.
目的 探討中國漢族群體Tourette綜閤徵(Tourette syndrome,TS)患者與多巴胺轉運體(dopamine transporter gene,DAT1)基因3'非翻譯區域的40 bp可變串聯重複序列(variable number of tandem repeat,VNTR)多態性的相關性.方法 應用聚閤酶鏈反應-可變重複串聯序列多態性分析技術對160箇TS覈心傢繫(患者及其父母)DAT1基因40bp VNTR多態性進行基因分型,應用傳遞不平衡分析(transmission disequilibrium test,TDT)和單倍型相對風險分析(haplotype relative risk,HRR)進行統計分析.結果 所測人群中DA T1基因的40bp VNTR多態性重複次數分彆為11、10、9、7.5、7,其中10次重複最為常見.DA T1基因的40bp VNTR多態性(10次重複序列)與TS髮病沒有明顯關繫(TDT:x2=0.472,df=1,P=0.583;HRR:x2=0.313,P=0.576,OR=0.855,95％CI:0.493～1.481).結論 DAT1基因的40bp VNTR多態性可能不是漢族人群TS髮病的易感基因位點,但仍需進一步擴大樣本,選擇不同種族人群和更多位點驗證.
목적 탐토중국한족군체Tourette종합정(Tourette syndrome,TS)환자여다파알전운체(dopamine transporter gene,DAT1)기인3'비번역구역적40 bp가변천련중복서렬(variable number of tandem repeat,VNTR)다태성적상관성.방법 응용취합매련반응-가변중복천련서렬다태성분석기술대160개TS핵심가계(환자급기부모)DAT1기인40bp VNTR다태성진행기인분형,응용전체불평형분석(transmission disequilibrium test,TDT)화단배형상대풍험분석(haplotype relative risk,HRR)진행통계분석.결과 소측인군중DA T1기인적40bp VNTR다태성중복차수분별위11、10、9、7.5、7,기중10차중복최위상견.DA T1기인적40bp VNTR다태성(10차중복서렬)여TS발병몰유명현관계(TDT:x2=0.472,df=1,P=0.583;HRR:x2=0.313,P=0.576,OR=0.855,95％CI:0.493～1.481).결론 DAT1기인적40bp VNTR다태성가능불시한족인군TS발병적역감기인위점,단잉수진일보확대양본,선택불동충족인군화경다위점험증.
Objective To assess the association of a 40 bp variable number of tandem repeat (VNTR)polymorphism within 3' untranslated region of dopamine transporter gene (DAT1)with Tourette syndrome (TS) in a Chinese Han population.Methods A total of 160 TS patients and their parents were recruited.The VNTR polymorphism was detected with polymerase chain reaction-variable number of tandem repeat analysis,and its association with TS and its subtypes was assessed through a family-based association study comprising transmission disequilibrium test (TDT) and haplotype relative risk (HRR) analysis.Results The repeat numbers at the DAT1 40 bp locus were 11,10,9,7.5 and 7 among the patients and their parents,with the most common type being a 10-repeat allele.No significant association between the polymorphism and TS (TDT:x2=0.472,df=1,P=0.583;HRR:x2 =0.313,P=0.576,OR=0.855,95％CI:0.493-1.481) was detected.Conclusion Our data suggested that the DAT1 gene VNTR polymorphism is not associated with susceptibility to TS in Chinese Han population.However,our results are to be replicated in larger sets of patients collected from other populations.
