摘要
目的 探讨神经营养素 3(neurotrophin 3,NT 3)基因启动区二核苷酸重复多态与精神分裂症之间的关系。方法 对 115个精神分裂症患者家系 [其中同胞家系 (10 5个 )及核心家系 (10个 ) ]进行基因分型 ,并结合诊断、阳性与阴性症状量表 (PANSS) 4个分量表的评分及发病年龄进行多等位基因模型和二等位基因模型的连锁不平衡分析。结果 (1)在多等位基因模型的连锁不平衡分析中 ,全体家系及发病年龄 <2 5岁患者 (15 7例 )的家系 ,未能显示NT 3基因启动区二核苷酸重复多态与精神分裂症有关 (P均 >0 0 5 )。 (2 )在二等位基因模型的连锁不平衡分析中 ,147bp等位基因片段由父母向患病子女的传递大于非传递 ,具有或接近显著性水平 (P≤ 0 0 5 ,0 0 7) ;该基因片段在PANSS 4个分量表的高分组 (评分 >2 5百分位数者 )中的传递均大于非传递 (P <0 0 1) ,而在发病年龄 <2 5岁患者的家系中 ,仅一般精神病理量表高分组的传递大于非传递 (P <0 0 5 )。结论 本组NT 3基因启动区二核苷酸重复多态 147bp等位基因与精神分裂症存在连锁不平衡 ,尤其在症状较重的患者中更为显著 ,而在发病年龄较早的患者中并不突出。
Objective To explore the relationship between the dinucleotide repeat polymorphism in the promoter region of neurotrophin 3 (NT 3) gene and schizophrenia. Methods One hundred and fifteen affected sib pair and trios families were genotyped on the dinucleotide repeat polymorphism of NT 3 gene. Both multi allelic mode and diallelic mode linkage disequilibrium (LD) analysis combining with diagnosis, symptoms and age of onset were conducted. Results (1) Multi allele mode LD analysis produced negative result. (2)Diallelic mode LD analyses indicated transmission of the special allele of 147 bp to the affected individuals was significant (P=0 04) or closely significant (P=0 07). The transmissions in the subgroups that the scores of PANSS G, PANSS P, PANSS N and PANSS S were above the 75 percentiles were significant as well, with P value of 0 019, 0 012, 0 025, 0 044 respectively. In the families with individuals′ onset age early than 25 years, the significant result was observed only in the subgroup of higher PANSS G score (P<0 05). Conclusions The special allele of 147 bp of dinucleotide repeat polymorphism in promoter region of NT 3 gene is linkage disequilibrium with schizophrenia, particularly in the individuals with severe symptoms, but does not seem to relate to the early onset.
出处
《中华精神科杂志》
CAS
CSCD
2000年第4期203-206,共4页
Chinese Journal of Psychiatry
关键词
精神分裂症
多态性
神经营养素-3
基因启动区
Schizophrenia
Polymorphism, restriction fragment length
Linkage disequilibrium
Neurotrophin 3 g
