| 谢林,鞠桂芝,刘树铮,史杰萍,于雅琴,尉军.人类染色体22q11精神分裂症易感基因的筛查研究[J].中华流行病学杂志,2004,25(9):787-790 |
| 人类染色体22q11精神分裂症易感基因的筛查研究 |
| Searching for a schizophrenia susceptibility gene in the 22q11 region |
| 收稿日期: 出版日期:2014-09-15 |
| DOI： |
| 中文关键词: 精神分裂症|染色体|单核苷酸多态性|易感基因 |
| 英文关键词: Schizophrenia|Chromosome|Single nucleotide polymorphism|Susceptibility gene |
| 基金项目:国家自然科学基金资助项目(30170343) |
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| 中文摘要: |
| 目的 在人类22q11区域内筛查与精神分裂症相关的易感基因. 方法 由中国汉族精神分裂症患者和他们的健康父母组成的100个核心家系作为研究对象. 采用聚合酶链反应-限制性片段长度多态性方法对22q11区域内分别位于腭心面综合征中缺失的犰狳重复基因(ARVCF)上的rs165655(A/G碱基改变)、rs165815(C/T碱基改变)和LOC128979(EST序列)位点上的rs756656(A/C碱基改变)3个单核苷酸多态性(SNP)进行检测. 用连锁不平衡方法分析基因型数据, 连锁不平衡方法包括单体型相对风险分析(HRR), 传递不平衡检验(TDT)和单倍型传递分析. 结果 3个SNP基因型频率分布都符合Hardy-Weinberg平衡; HRR和TDT分析结果都显示rs165815与精神分裂症有关联(P＜0.05), 而rs165655和rs756656与精神分裂症无关联; 单倍型传递分析结果显示, 父母传递给患病子女的rs165655-rs165815单倍体和rs756656-rs165655-rs165815单倍体的频率偏离50%, 差异具有统计学意义(P＜0.01). 结论 对于中国汉族精神分裂症患者而言, ARVCF基因本身或其附近的基因可能与精神分裂症的易感性有关联. |
| 英文摘要: |
| Objective To investigate the genetic association for schizophrenia within the long arm region 1 band 1 of chromosome 22 (22q11)in a Han Chinese population. Methods Polymerase chain reaction(PCR)-based restriction fragment length polymorphism(RFLP) analysis was used to detect three single nucleotide polymorphism(SNPs), rs165655(A/G base change) and rs165815(C/T base change) present in the ARVCF (armadillo repeat gene deletion in velocardiofacial syndrome) locus, and rs756656 (A/C base change) in the LOC128979 (expressed sequence tags, EST) locus,among 100 nuclear families composed of fathers,mothers and affected offspring with schizophrenia. Genotyping data were analyzed by linkage disequilibrium methods including haplotype relative risk(HRR)analysis, transmission disequilibrium test(TDT)and haplotype transmission analysis. Results The genotype frequency distributions of three SNPs were all in Hardy-Weinberg equilibrium; Both HRR and TDT analysis showed that rs165815 was associated with schizophrenia (P<0.05), whereas the other two SNPs did not show any allelic association. The haplotype transmission analysis showed a biased transmission for the rs165655-rs165815 haplotype system and for the rs756656-rs165655-rs165815 hapoltype system(P<0.O1). Conclusion Either ARVCF gene itself or a nearby locus might confer susceptibility to schizophrenia in a Han Chinese population. |
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