CAJ | 학술논문

目的探讨磷酸二酯酶4B基因多态性与精神分裂症的相关性.方法运用聚合酶链反应扩增及单核苷酸多态性的分子生物学技术,收集符合精神分裂症诊断标准的98个先证者及其父母组成的核心家系,对其磷酸二酯酶4B基因rs1040716,rs2180335,rs3767311,rs472952多态性分型,进行精神分裂症的磷酸二酯酶4B基因多态性的关联分析和单体型相对风险率分析.结果 rs2180335等位基因与精神分裂症相关联(P=0.02131),其中等位基因A是保护因素(Z=-2.184),G为危险因素(Z=2.184),A等位基因频率为0.452.G为0.548;rs1040716,rs3767311,rs472952与精神分裂症无关联.五种单体型rs2180335-rs3767311的A/A、rs 3767311-rs472952的A/A、rs2180335-rs3767311-rs472952中的A/A/A、rs1040716-rs2180335-rs 3767311-rs472952中的A/G/G/A,T/A/A/A与精神分裂症有关联(P值分别为0.028715,0.034845,0.024177,0.023967,0.010839,基因型频率分别为0.223,0.223,0.127,0.081,0.073).结论磷酸二酯酶4B基因rs1335042与精神分裂症相关联.
목적 탐토린산이지매4B기인다태성여정신분렬증적상관성.방법 운용취합매련반응확증급단핵감산다태성적분자생물학기술,수집부합정신분렬증진단표준적98개선증자급기부모조성적핵심가계,대기린산이지매4B기인rs1040716,rs2180335,rs3767311,rs472952다태성분형,진행정신분렬증적린산이지매4B기인다태성적관련분석화단체형상대풍험솔분석.결과 rs2180335등위기인여정신분렬증상관련(P=0.02131),기중등위기인A시보호인소(Z=-2.184),G위위험인소(Z=2.184),A등위기인빈솔위0.452.G위0.548;rs1040716,rs3767311,rs472952여정신분렬증무관련.오충단체형rs2180335-rs3767311적A/A、rs 3767311-rs472952적A/A、rs2180335-rs3767311-rs472952중적A/A/A、rs1040716-rs2180335-rs 3767311-rs472952중적A/G/G/A,T/A/A/A여정신분렬증유관련(P치분별위0.028715,0.034845,0.024177,0.023967,0.010839,기인형빈솔분별위0.223,0.223,0.127,0.081,0.073).결론 린산이지매4B기인rs1335042여정신분렬증상관련.
Objective To detect the genetic association between schizophrenia and polymorphism of phosphodiesterase 4B (PDE4B) gene. Methods Observed in a sample of 98 parent/offspring trios where the proband net the Amerecan Classification and diagnostic Criteria for Mental Disorders The Forth Revised Edition,criteria for schizophrenia using correlation analysis and haplotype relative risk analysis. The polymorphism of phosphodiesterase 4B gene was detected with PCR methods and SNP typing in all nucleus families. Results The rs2180335 al-lele was connected with schizophrenia (P = 0.02131). Allele A was protective factor (Z = -2. 184) and allele G was the hazard factor (Z = 2.184). The frequency of rs2180335 allele A was 0.452 and the allele G was 0.548. The rs1040716, rs 3767311 and rs472952 allele was independence with schizophrenia. Five kinds haplotypes of A/A in the rs2180335-rs3767311, A/A in the rs 3767311-rs472952, A/A/A in the rs2180335-rs3767311-rs472952,A/G/G/A and T/A/A/A in the rs1040716-rs2180335-rs3767311-rs472952 associated with schizophrenia (P values were 0. 028715,0. 034845,0. 024177,0. 023967,0. 010839,genotype frequencies were 0. 223, 0.223,0.127,0.081,0.073). Conclusion It shows an association between schizophrenia and the rs2180335 polymorphism at nucleotide of phosphodiesterase 4B gene in Chinese.