儿童精神分裂症患者DISC1基因rs821597多态性与神经系统软体征的相关分析  

Association of single nucleotide polymorphisms rs821597 in DISC1 gene with neurological soft signs in childhood-onset schizophrenia

作　　者：邵荣荣[1] 郭素芹[1] 李文强[2] 陈华锋[1] 梁颖慧[1] 

机构地区：[1]河南省精神病院新乡医学院第二附属医院儿童青少年精神科,453002 [2]河南省精神病院新乡医学院第二附属医院中心实验室,453002

出　　处：《中华精神科杂志》2016年第2期86-91,共6页Chinese Journal of Psychiatry

基　　金：河南省重点科技攻关计划项目，Science and Technology Planning Project of Henan Province of China

摘　　要：目的探讨童精神分裂症患者的DISCl基因rs821597多态性与神经系统软体征（neurological soft signs,NSS）的相关分析。方法研究对象为300例儿童精神分裂症患者（病例组）和270名性别及年龄相匹配的健康人（对照组）。采用限制性片段长度多态性方法检测病例组和对照组的DISC1基因rs821597基因型，使用剑桥神经科检查软体征测试分量表检查和评估2组的NSS。结果病例组与对照组的rs821597基因型[AA：90（30．0％1、AG：141（47．1％）、GG：69（22．9％）与AA：58（21．3％）、AG：136（50．4％）、GG：76（28．3％）1及等位基因[A：321（53．5％）、G：279（46．5％）与A：252（46．7％）、G：288（53．3％）]频率比较差异有统计学意义（χ2=6．54、6．12，P=0．040、0．010）；经多重检验校正，NSS评分在左侧对指运动、序列对指运动及手指感觉测验，右侧轮替运动，左有拳手掌测验及皮肤书写感测验，Oseretsk测验，病例组高于对照组（P〈0．002），运动协调分、感觉整合分、脱抑制分因子及NSS总分差异具有统计学意义（Z=-9．336、-6．736、-2．951、-8．861，均P〈0．05）；不同基因型的患者间在左右序列对指运动、轮替运动、立体感觉测验及镜像运动1，右拳手掌测验及皮肤书写感测验，Oseretsky测验，眼睛闪烁（均P〈0．002），以及运动协调分、NSS总分差异均有统计学意义（z=-4．400、-3．580，均P〈0．05）。Q检验湿示AA、AG型NSS阳性条目检出率、NSS总分、运动协调分均明显高于GG型。结论rs821597基因多态性与豫北汉族儿童精神分裂症患者及其NSS存在关联；儿童精神分裂症患者较健康儿童有更高的NSS检出率；携带rs821597等位基因A的患者较其他基因型患者有更高的NSS检出率。Objective To explore neurological soft signs （NSS） and its＇ relationship with the DISC 1 gene polymorphism in childhood schizophrenia. Methods 300 childhood-onset schizophrenia patients, and 270 gender/age matched healthy controls were enrolled in this study. The genotype of SNP rs821597 was detected by polymerase chain reaction based restriction fragment length polymorphism analysis. And the two groups were assessed with the soft signs examination based on the Cambridge Neurological Inventory. Results Both the genotype （AA：90（30.0%）, AG： 141（47.1%）, GG：69（22.9%） vs. AA：58（21.3%）, AG： 136 （50.4%）, GG：76（28.3%）） and allele frequencies （A：321（53.5%）, G：279（46.5%） vs. A：252（46.7%）, G：288 （53.3%） ） were significantly different between patients and controls （χ2=6.54, 6.12; P=0.040, 0.010）. After multiple test correction, the childhood-onset schizophrenia patients showed higher rates of positive sign than the control group in left finger-thumb tapping, finger thumb opposition and fingeragnosia, right diadochokinesis, left and right fist-edge-palm test and graphesthesia oseretsk test （χ2=15.42, 21.31, 10.47, 17.66, 23.21, 19.16, 21.49,74.64, 33.78; all P〈0.002）, and the motor coordination scores, sensory integration scores, disinhibition scores and the NSS total scores（Z=-9.336,-6.736,-2.951,- 8.861; all P〈0.05）, which were analyzed by nonparameter test. There were significant differences in left and right finger thumb opposition, diadochokinesis, stereognosis and mirror movement of finger thumb opposition, right graphesthesia and fist-edge-palm test, oseretsky test, wink（χ2=24.89, 25.22, 50.08, 29.41, 20.00, 46.27, 14.09, 26.75,33.75, 63.54, 15.11, 34.20; all P〈0.002）, motor coordination scores, NSS total scores （Z=-4.400,-3.580; both P〈0.05） between different genotypes carriers. The AA and AG genotypes carriers in patients showed significant higher NSS positive rates, NSS total scores and motor coordination scores

关 键 词：儿童 精神分裂症 多态现象 遗传 神经系统软体征 

分 类 号：R749.3[医药卫生—神经病学与精神病学]