欢迎访问《现代生物医学进展》编辑部！

目的：探讨胆囊收缩素（cholecystokinin，CCK）基因、胆囊收缩素A 受体（cholecystokinin A receptor，CCKAR）基因和胆囊收缩素B受体（cholecystokininA receptor，CCKBR）基因多态性与精神分裂症之间的相关性。方法：采用聚合酶链式反应-限制性片段长度多态性方法，对420 例精神分裂症患者（病例组）和455 例健康个体（对照组）三个基因的6 个单核苷酸多态性（single nucleotide polymorphism，SNPs）位点（rs11571842、rs13069836、rs1800908、rs1800857、rs1042047、rs4758092）的多态性进行检测。并比较两组人群中基因型和等位基因频率分布的差异。结果：对照组6 个SNPs位点的基因型频率分布均符合Hardy-Weinberg 平衡（P > 0.05）；CCKAR基因rs1800857 位点基因型频率分布在精神分裂症组与正常对照组间存在显著性差异（P < 0.000），病例组T 等位基因频率显著高于对照组（P < 0.01）。结论：CCKAR 基因多态性与精神分裂症相关，携带T 等位基因的个体可能更容易患精神分裂症。

英文摘要:

Objective:To investigate association of 6 single nucleotide polymorphisms (SNPs) in cholecystokinin (CCK), cholecystokinin A recepter (CCKAR) and cholecystokinin B recepter (CCKBR) with schizophrenia.Methods:Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect 6 SNPs (rs11571842, rs13069836, rs1800908, rs1800857, rs1042047 and rs4758092) in 420 schizophrenic patients (case group) and 455 healthy individuals (control group) of the Han population in Shanxi China. The x2 test was used to identify Hardy-Weinberg equilibrium of the genotype distribution in control group. The differences of genotype and allele frequencies distributions were compared between two groups.Results:Distributions of the genotype frequencies of all 6 SNPs satisfied the law of Hardy-Weinberg equilibrium in control group. The difference of genotype frequencies of rs1800857 in CCKAR were statistical significance in case group and control groups (P<0.000) and the frequency of allele T in case group was statistically higher than that in control group (P<0.01).Conclusion:The polymorphismof CCKAR gene may be positively associated with schizophrenia in female population and useful in schizophrenia identification.

View Full Text View/Add Comment Download reader