精神分裂症与KCNN3基因1137～1140缺失移码突变传递不平衡研究  

Transmission disequilibrium analysis of 1137-1140 Del GTGA frameshift mutation within the KCNN3 gene and schizophrenia based on family trios

作　　者：洪晓虹[1] 许崇涛[1] 杨权[1] 吴彩茹[1] 

机构地区：[1]广东省汕头大学精神卫生中心,515063

出　　处：《中华医学遗传学杂志》2005年第4期441-443,共3页Chinese Journal of Medical Genetics

基　　金：国家"十五"科技攻关计划基金(2002BA711A08);广东省医学科学技术基金(A2003535)~~

摘　　要：目的探讨KCNN3基因1137～1140的4个碱基缺失所致移码突变与精神分裂症的关系。方法95个核心家系共289名家庭成员,包含107例精神分裂症患者纳入本研究。精神分裂症采用CCMDⅡR诊断标准。KCNN3基因1137～1140的4个碱基缺失基因型检测使用PCR技术和限制性内切酶DdeⅠ消化方法。精神分裂症与KCNN3基因1137～1140缺失4个碱基的关联分析采用基于单倍型的单倍型相对风险率和传递/不平衡检验。结果患者组与正常父母组比较,KCNN3基因1137～1140的4个碱基缺失的基因型频数和等位基因频率分布差异无统计学意义(χ2=0.253,P>0.05和χ2=0.010,P>0.05)。基于单倍型的单倍型相对风险分析发现父母传递与不传递给患者的KCNN3基因等位基因之间差异无统计学意义(χ2=0.042,P>0.05)。传递不平衡检验结果发现KCNN3基因等位基因传递不存在连锁不平衡(χ2=3.000,P=0.0833)。结论本组研究对象中,KCNN3基因第1外显子1137～1140的4个碱基缺失的发生率少;分析结果提示KCNN3基因第1外显子1137～1140的4个碱基缺失的等位基因与精神分裂症无关联。Objective To investigate the relationship between 1137-1140 Del GTGA in exon 1 at KCNN3 gene and schizophrenia. Methods The study included 289 subjects （affected 107; unaffected 182） from 95 schizophrenic trios. All subjects were collected from Han Chinese in south China and genotyped for 1137-1140 Del GTGA in KCNN3 using PCR and restriction endonuelease Dde Ⅰ. All the affected patients met the CCMD-Ⅱ-R criteria for schizophrenia. The haplotype-based haplotype relative risk（HHRR） and transmission/disequilibrium test（TDT） analyses were done in 95 schizophrenic trios. Results Comparative analysis on the distribution of alleles between the affected and unaffected parents（87 family trios） showed no significant differenee（χ^2 = 0.253, P 〉 0.05）. HHRR showed that KCNN3 gene alleles transmitted to the patients were not different from that of the non-transmitted parental alleles（χ^2 = 0.042, P 〉 0.05）. TDT revealed that A2 alleles were not preferentially transmitted to schizophrenic patients （χ^2 = 3. 000, P = 0. 0833 ）. Conclusion In this study a lower frequency for 1137-1140 Del homozygote of KCNN3 gene was observed, and the HHRR and TDT analyses suggested that the 1137-1140 Del alleles of KCNN3 gene be unlikely to confer susceptibility to schizophrenia.

关 键 词：精神分裂症 KCNN3基因 移码突变 碱基缺失 等位基因 

分 类 号：R749.3[医药卫生—神经病学与精神病学] R596[医药卫生—临床医学]