中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2008年
2期
154-158
,共5页
彭志珍%万晓娜%蒋廷云%程璐%孙蓓丽%洪晓虹
彭誌珍%萬曉娜%蔣廷雲%程璐%孫蓓麗%洪曉虹
팽지진%만효나%장정운%정로%손배려%홍효홍
精神分裂症%神经型烟碱乙酰胆碱受体α7亚单位基因%单核苷酸多态性
精神分裂癥%神經型煙堿乙酰膽堿受體α7亞單位基因%單覈苷痠多態性
정신분렬증%신경형연감을선담감수체α7아단위기인%단핵감산다태성
schizophrenia%neuronal nicotinic acetylchohne receptor α7 subunit gene%single nucleotide polymorphism
目的 探讨神经型烟碱乙酰胆碱受体α7亚单位基因(neuronal nicotinic acetyleholine receptor α7 subunit gene,CHRNA7)多态性与精神分裂症的关系.方法 应用聚合酶链反应及聚丙烯酰胺凝胶芯片技术检测129个精神分裂症先证者核心家系CHRNA7基因的rs2337980、rs1909884、rs883473三个单核苷酸多态性,并采用基于单倍型的单倍型相对风险检验(haplotype relative risk,HHRR)、传递不平衡检验(transmission disequilibrium test,TDT)及单倍型分析进行统计.结果 (1)HHRR分析结果显示rs2337980位点精神分裂症患者组与虚拟对照组之间等位基因频率差异有统计学意义(P=0.017);(2)TDT分析发现,rs2337980位点与精神分裂症之间可能存在传递不平衡,杂合子父母过多的传递等位基因C给患病子女(P=0.021).(3)单倍型分析发现,rs2337980、rsl909884及rs2337980、rsl909884、rs883473组成的单倍型与精神分裂症有显著相关(总体P=0.034;glohal P=0.027),其中T-C,T-C-T两个单倍型与精神分裂症可能存在传递不平衡.结论 CHRNA7 基因多态性可能与精神分裂症存在关联,rs2337980的变异等位基因T可能是精神分裂症的保护性因子.
目的 探討神經型煙堿乙酰膽堿受體α7亞單位基因(neuronal nicotinic acetyleholine receptor α7 subunit gene,CHRNA7)多態性與精神分裂癥的關繫.方法 應用聚閤酶鏈反應及聚丙烯酰胺凝膠芯片技術檢測129箇精神分裂癥先證者覈心傢繫CHRNA7基因的rs2337980、rs1909884、rs883473三箇單覈苷痠多態性,併採用基于單倍型的單倍型相對風險檢驗(haplotype relative risk,HHRR)、傳遞不平衡檢驗(transmission disequilibrium test,TDT)及單倍型分析進行統計.結果 (1)HHRR分析結果顯示rs2337980位點精神分裂癥患者組與虛擬對照組之間等位基因頻率差異有統計學意義(P=0.017);(2)TDT分析髮現,rs2337980位點與精神分裂癥之間可能存在傳遞不平衡,雜閤子父母過多的傳遞等位基因C給患病子女(P=0.021).(3)單倍型分析髮現,rs2337980、rsl909884及rs2337980、rsl909884、rs883473組成的單倍型與精神分裂癥有顯著相關(總體P=0.034;glohal P=0.027),其中T-C,T-C-T兩箇單倍型與精神分裂癥可能存在傳遞不平衡.結論 CHRNA7 基因多態性可能與精神分裂癥存在關聯,rs2337980的變異等位基因T可能是精神分裂癥的保護性因子.
목적 탐토신경형연감을선담감수체α7아단위기인(neuronal nicotinic acetyleholine receptor α7 subunit gene,CHRNA7)다태성여정신분렬증적관계.방법 응용취합매련반응급취병희선알응효심편기술검측129개정신분렬증선증자핵심가계CHRNA7기인적rs2337980、rs1909884、rs883473삼개단핵감산다태성,병채용기우단배형적단배형상대풍험검험(haplotype relative risk,HHRR)、전체불평형검험(transmission disequilibrium test,TDT)급단배형분석진행통계.결과 (1)HHRR분석결과현시rs2337980위점정신분렬증환자조여허의대조조지간등위기인빈솔차이유통계학의의(P=0.017);(2)TDT분석발현,rs2337980위점여정신분렬증지간가능존재전체불평형,잡합자부모과다적전체등위기인C급환병자녀(P=0.021).(3)단배형분석발현,rs2337980、rsl909884급rs2337980、rsl909884、rs883473조성적단배형여정신분렬증유현저상관(총체P=0.034;glohal P=0.027),기중T-C,T-C-T량개단배형여정신분렬증가능존재전체불평형.결론 CHRNA7 기인다태성가능여정신분렬증존재관련,rs2337980적변이등위기인T가능시정신분렬증적보호성인자.
Objective To investigate the association between neuronal nicotinic acetylcholine receptor α7 subunit(CHRNA7)gene and schizophrenia.Methods The three polymorphisms rs2337980,rsl909884,rs883473 in CHRNA7 gene were detected based on PCR and polyacrylamide gel microarray in 129 schizophrenic trios.The results of genotyping were analyzed by haplotype relative risk analysis based on haplotype(HHRR),transmission disequilibrium test (TDT)and hyplotype analysis.Results (1)The HHRR analysis suggested that there was significant differences in rs2337980 allele frequencies between schizophrenia group and dummy control group(P=0.017);(2)In TDT test,there may be transmission disequilibrium between rs2337980 and schizophrenia,the heterozygous parents excessively transferred the C allele to patients(P=0.021);(3)The haplotypebetween rs2337980 and rsl909884 as well as the hyplotype among rs2337980,rsl909884 and rs883473 may have significant association with schizophrenia(global P=0.034;global P=0.027),the T-C and T-C-T hyplotype may have transmission disequilibrium with schizophrenia.Conclusion There may be association between CHRNA7 gene polymorphisms and schizophrenia,the variant allele T in rs2337980 may have a protective effect to schizophrenia.
