151個(gè)精神分裂癥家系中多巴胺D3受體基因Ser9Gly多態(tài)的

［摘　要］ 目的: 探討多巴胺D3受體基因(DRD 3)第一外顯子Ser9Gly多態(tài)性與精神分裂癥的關(guān)系。方法:采集151個(gè)家系，每家有2名或2名以上符合ICD-10精神分裂癥診斷標(biāo)準(zhǔn)的患病同胞父母存活且父母中至多只有一方有精神分裂癥患病 史。對DRD3基因的Ser9Gly多態(tài)性進(jìn)行檢測。結(jié)果: (1)總體而言，DRD3基因的Ser9Gly等位 基因頻度和基因型頻度在父母組、非患病同胞組和患病同胞組之間差異無顯著性，在精神分裂癥不同亞型之間基因型頻度和等位基因頻度的分布差異也沒有統(tǒng)計(jì)學(xué)意義。(2) 傳遞不平衡檢驗(yàn)(TDT)發(fā)現(xiàn)在患病同胞中存在傳遞不平衡(χ2=7.76，P=0.005 3，OR=1.70，95%置信區(qū)間為1.15～2.52)。(3) 基因型與臨床特征的相關(guān)分析顯示，具有Ser9等位基因的患病同胞較多地出現(xiàn)陰性癥狀。結(jié)論：DRD3基因的Ser9Gly多態(tài)與家族性精神分裂癥相關(guān)聯(lián)。研究支持DRD3作為精神分裂癥的候選基因之一。

［關(guān)鍵詞］ 精神分裂癥/遺傳學(xué)；受體，多巴胺；多態(tài)現(xiàn)象；外顯子

［中圖分類號］ R749.3　�。畚墨I(xiàn)標(biāo)識碼］ A

［文章編號］ 1000-1530（2000）05-0455-03

Disequilibrium transmission of Ser9Gly polymorphism of Do pamine D3 receptor gene in 151 schizophrenia families

ZHOU Ru-Lun　HU Xian-Zhang　ZHOU Chao-Feng　HAN Yong-Hua　CHEN Chang-Hui　WANG Yu-Feng　SHEN Yu-Cun

（Peking University Institute of Mental Health, Beijing　100083, China）

ABSTRACT　Objective: To investigate the asso ciation between Ser9Gly polymorphism of dopamine D3 receptor gene (DRD3) and schizophrenia. M etho ds: The Ser9Gly polymorphism of DRD3 was tested in 151 Chinese Han's pe digrees each of which had two or more affected schizophrenia siblings who fulfilled the ICD-10 criteria with the parents alive and at most only one of whose parents may have the history of suffering schizophrenia. Results: (1) Totally, the distributions of alleles o r genotypes of DRD3 Ser9Gly polymorphism are not significantly different between the groups of paren ts, unaffected-siblings and affected-siblings, and between the sub-types of schi zophrenia. (2) The transmission disequilibrium test (TDT) shows the transmission disequilib rium in affected-siblings (χ2 = 7.76, P = 0.005　3, OR = 1.70, 95%IC: 1.15-2.52). （3) The correlation analysis was taken between genotypes and clinical status．　The res ults show that schizophrenia siblings with Ser9 allele are apt to have negative symptoms. Conclusion: The results show that there may ex

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