中国行为医学科学
中國行為醫學科學
중국행위의학과학
2008年
7期
613-616
,共4页
卢建平%苏林雁%舒明跃%杨志伟%吴怀安%邓小敏%雷映
盧建平%囌林雁%舒明躍%楊誌偉%吳懷安%鄧小敏%雷映
로건평%소림안%서명약%양지위%오부안%산소민%뢰영
儿童孤独症%5-HT2A%5-HT6%APOE%基因多态性%传递不平衡%关联分析
兒童孤獨癥%5-HT2A%5-HT6%APOE%基因多態性%傳遞不平衡%關聯分析
인동고독증%5-HT2A%5-HT6%APOE%기인다태성%전체불평형%관련분석
Autistic disorder%5-HT2A%5-HT6%APOE%Gene%Polymorphism%Transmission/ disequilibrium test Association analysis
目的 探讨儿童孤独症与5-羟色胺2A受体(5-HT2A)及5-羟色胺6受体(5-HT6)和载脂蛋白E(APOE)基因多态性之间的关系.方法 应用聚合酶链反应和限制性片段长度多态性技术检测符合ICD-10诊断标准的孤独症患儿(患者组)和他们的父母(对照组)的5-HT2A及5-HT6和APOE基因多态性,采用传递不平衡检验(TDT)方法进行儿童孤独症核心家系5-HT2A及5-HT6和APOE基因与孤独症的关联分析.结果 (1)孤独症组和父母对照组5-HT2A基因型频率和等位基因频率分布2组间的均差异无显著性(X2=0.849,P=0.654;X2=0.234,P=0.629);APOE基因型频率和等位基因频率分布2组间的均差异无显著性(X2=5.524,P=0.238;x2=0.312,P=0.856);5-HT6基因型频率和等位基因频率分布2组间的均差异无显著性(X2=1.423,P=0.491;X2=1.169,P=0.280).(2)传递不平衡检验(TDT)发现5-HT6发生传递不平衡,孤独症与5-HT6基因相连锁(P=0.04).结论 5-HT6基因与儿童孤独症存在关联,其周围可能存在孤独症的致病基因.
目的 探討兒童孤獨癥與5-羥色胺2A受體(5-HT2A)及5-羥色胺6受體(5-HT6)和載脂蛋白E(APOE)基因多態性之間的關繫.方法 應用聚閤酶鏈反應和限製性片段長度多態性技術檢測符閤ICD-10診斷標準的孤獨癥患兒(患者組)和他們的父母(對照組)的5-HT2A及5-HT6和APOE基因多態性,採用傳遞不平衡檢驗(TDT)方法進行兒童孤獨癥覈心傢繫5-HT2A及5-HT6和APOE基因與孤獨癥的關聯分析.結果 (1)孤獨癥組和父母對照組5-HT2A基因型頻率和等位基因頻率分佈2組間的均差異無顯著性(X2=0.849,P=0.654;X2=0.234,P=0.629);APOE基因型頻率和等位基因頻率分佈2組間的均差異無顯著性(X2=5.524,P=0.238;x2=0.312,P=0.856);5-HT6基因型頻率和等位基因頻率分佈2組間的均差異無顯著性(X2=1.423,P=0.491;X2=1.169,P=0.280).(2)傳遞不平衡檢驗(TDT)髮現5-HT6髮生傳遞不平衡,孤獨癥與5-HT6基因相連鎖(P=0.04).結論 5-HT6基因與兒童孤獨癥存在關聯,其週圍可能存在孤獨癥的緻病基因.
목적 탐토인동고독증여5-간색알2A수체(5-HT2A)급5-간색알6수체(5-HT6)화재지단백E(APOE)기인다태성지간적관계.방법 응용취합매련반응화한제성편단장도다태성기술검측부합ICD-10진단표준적고독증환인(환자조)화타문적부모(대조조)적5-HT2A급5-HT6화APOE기인다태성,채용전체불평형검험(TDT)방법진행인동고독증핵심가계5-HT2A급5-HT6화APOE기인여고독증적관련분석.결과 (1)고독증조화부모대조조5-HT2A기인형빈솔화등위기인빈솔분포2조간적균차이무현저성(X2=0.849,P=0.654;X2=0.234,P=0.629);APOE기인형빈솔화등위기인빈솔분포2조간적균차이무현저성(X2=5.524,P=0.238;x2=0.312,P=0.856);5-HT6기인형빈솔화등위기인빈솔분포2조간적균차이무현저성(X2=1.423,P=0.491;X2=1.169,P=0.280).(2)전체불평형검험(TDT)발현5-HT6발생전체불평형,고독증여5-HT6기인상련쇄(P=0.04).결론 5-HT6기인여인동고독증존재관련,기주위가능존재고독증적치병기인.
Objective To investigate the association between 5-HT2A,5-HT6,APOE gene and Chinese autistic children. Methods The ploymorphisms of 5-HT2A,5-HT6 ,APOE gene were detected with PCR-RFLP in parent/offspring trios where the proband met the ICD-10 autism criteria. Transmission/disequilibrium test (TDT) analysis was used in all nucleus families. Results (1) The differences of 5-HT2A,5-HT6, APOE genotypic distribution between two groups were not statistical significant (P0.05). (2) With transmission/disequilibrium test (TDT) analysis,there was a linkage association between autism and 5-HT6 gene polymorphism(P=0.04). Conclusion It showed a possibility of linkage association between autism and 5-HT6 gene, and 5-HTs may be a predisposing gene of Chinese autistic children.
