混合家系中NOTCH4基因多态与精神分裂症、心境障碍关联研究

文章旨在探讨NOTCH4基因多态性与精神分裂症（SP）、心境障碍（MD）的关系，搜寻中国汉族人群SP与MD的共同易患基因。在中国汉族人群中收集61个SP与MD的混合家系，应用PCR-RFLP方法对NOTCH4基因多态性-1725T/G、-25T/C分型，进行传递不平衡检验（TDT）和基于单体型的单体型相对风险分析（HHRR）。结果显示-1725T/G 与SP或MD无明显关联（P>0.05）；-25T/C与SP无明显关联（P>0.05），与女性或发病年龄≤25岁的MD相关联（P<0.05）；单体型-1725G/-25T与SP相关联（P<0.05），与MD无明显关联（P>0.05）。本研究结果提示，在我们研究的家系中NOTCH4或邻近基因可能是精神分裂症与心境障碍的共同易患基因之一。

Association Study of NOTCH4 Gene Polymorphisms with Schizophrenia and Mood Disorders in Mixed Pedigrees

This study was to explore the relationships between NOTCH4 gene and schizophrenia (SP) and mood disorders (MD), and to search for a common susceptible gene for SP and MD in Chinese Han population. We collected 61 mixed pedigrees of SP and MD in Chinese Han population. NOTCH4 polymorphisms -1725T/G and-25T/C were genotyped by applying PCR-RLFP technique, then transmission disequilibrium test (TDT) and haplotype-based haplotype relative risk analysis(HHRR) were performed. The results showed that -1725T/G was not associated with SP or MD (P>0.05), -25T/C was not associated with SP (P>0.05), but associated significantly with MD for female or early-onset (age of onset0.05). Our results suggested NOTCH4 or neighboring gene might be a common susceptible gene for SP and MD in the pedigrees studied.