摘要
目的 :探讨腭心面综合征中缺失的犰狳重复基因 ( ARVCF)的基因多态性与精神分裂症的关系。方法 :在 1 1 6个汉族精神分裂症核心家系中 ,以 PCR和限制性片段长度多态 ( RFLP)方法对 ARVCF基因编码区序列第 3675碱基 A/G单核苷酸多态性 ( SNP)进行检测。结果 :父母组和患者组 ARVCF等位基因和基因型分布无差异 ;单体型相对风险分析 ( HRR)结果显示 ARVCF基因A/G多态性与精神分裂症无关联 ;传递不平衡检验 ( TDT)结果提示杂合子父母传递给患病子女致病等位基因频率没有偏离 5 0 %;ARVCF基因型与精神分裂症的阴性症状情感迟钝淡漠有关 ( χ2 =1 0 .386,P<0 .0 5 )。结论 :对于中国汉族精神分裂症患者来说 ,本研究尚不能确定 ARVCF基因多态性与精神分裂症有关联及连锁 。
Objective: To investigate the association between schizophrenia and the polymorphism of armadillo repeat gene deletion in velocardiofacial syndrome (ARVCF). Methods:PCR Restrictive Fragment Length Polymorphism was used to examine the 3675A/G single nucleotide polymorphism (SNP) of ARVCF with 116 nuclear family trios of schizophrenia. Results: There was no remarkable difference with the distribution of alleles and genotypes of ARVCF between the groups of healthy parents and patients; The results of HRR didn′t show the significant association between the polymorphism of ARVCF and schizophrenia; The results of TDT indicated that the allelic frequency transmitted from the heterozygote parents didn′t deviate 50%; There was significant association between ARVCF genotype and apathy that was a negative symptom of schizophrenia( χ 2=10.386,P <0.05). Conclusion:As far as Chinese han schizophrenia in this paper are concerned,the association between the polymorphism of ARVCF and schizophrenia may not be assured, but the effect of polymorphism of ARVCF on psychotic symptoms in schizophrenia cann′t be excluded.
出处
《吉林大学学报（医学版）》
CAS
CSCD
北大核心
2003年第4期385-388,共4页
Journal of Jilin University：Medicine Edition
基金
国家自然科学基金资助课题 (30 1 70 343)
吉林大学青年教师基金资助
