隐花色素-1基因与精神分裂症核心家系的传递不平衡分析  

Transmission disequilibrium test of the clock gene cryptochrome-1 and schizophrenia based on familv trios

作　　者：彭子文[1] 陈晓岗[1] 唐劲松[1] 徐西嘉[1] 谭立文[1] 

机构地区：[1]中南大学湘雅二医院精神卫生研究所,长沙410011

出　　处：《中华精神科杂志》2007年第4期201-204,共4页Chinese Journal of Psychiatry

基　　金：国家自然科学基金重点资助项目(60433020)

摘　　要：目的探讨精神分裂症与隐花色素-1(Cry1)基因多态性的关联关系。方法应用聚合酶链反应和限制性片段长度多态性技术对100个精神分裂症核心家系的 Cry1基因上的多态性位点 rs2300448、rs1921135和 rs1056560进行多态性检测;用 Genehunter2.1软件包进行传递不平衡分析(TDT),并构建可能的单体型。结果 (1)rs2300448多态性位点等位基因 G 和等位基因 A 传递给患病子女的频率差异有统计学意义,等位基因 G 优先传递给患病子女(x^2=4.92,P=0.027),但 P 值经Bonferroni 校正后,差异无统计学意义(Pc=0.054);rs1056560和 rs1921135多态性位点未发现传递不平衡现象(x^2=0.15,P=0.698;x^2=0.56,P=0.456)。(2)单体型 rs 2300448-rs1056560G-A(x^2=6.76,P=0.009)、rs1921135-rs2300448-rs1056560T-G-C(x^2=4.50,P=0.034)和 C-G-A(x^2=6.37,P=0.012)存在传递不平衡现象,但 P 值经 Bonferroni 校正后,T-G-C 和 C-G-A 差异均无统计学意义(P>0.05),只有单体型 rs2300448-rs1056560G-A 差异有统计学意义(Pc=0.036)。结论 Cry1基因可能与精神分裂症相关联。Objective To investigate the relationship between schizophrenia and polymorphisms of cryptochrome-1 gene in Chinese Han family trios. Methods The polymorphism sites rs2300448, rs1921135 and rs1056560 in cryptochrome-1 gene were genotyped and analyzed with transmission disequilibrium test （TDT） in 100 schizophrenic trios. Haplotype analysis was carried out to ascertain the interval of the disease locus. Results （ 1 ） Significant preferential transmission of the allele of rs2300448 was observed and the allele G preferentially transmitted from parents to affected offspring （X^2 = 4. 92, P = 0. 027 ）, however, the significance was lost after Bonferroni correction （Pc = 0. 054）. And preferential transmissions were not found in rs1056560 and rs1921135 （X^2 =0. 15, P =0.698 and X^2 =0.56, P =0.456）. （2） Three haplotypes showed significant transmission distortion, including rs2300448-rs1056560G-A （ X^2 = 6. 76, P = 0. 009） ; rs1921135-rs2300448-rslO56560T-G-C （X^2 =4. 50, P =0. 034） and C-G-A （X^2 =6.37, P =0. 012）, but the significances were lost after Bonferroni correction（ Pc 〉 0. 05）in haplotypes T-G-C and C-G-A, and only remained in haptotype G-A （ Pc = 0. 036）. Conclusion The cryptochrome-1 gene may be associated with schizophrenia in Chinese Han population.

关 键 词：精神分裂症 遗传 基因 生物节律 隐花色素-1 传递不平衡检验 

分 类 号：R749.3[医药卫生—神经病学与精神病学]