目的 探讨中国汉族人群中蛋白酶体α6亚单位(PSMA6)基因1233A/T(-1520C/T)位点的多态性与脑梗死的相关性。 方法 2012年1月至2015年4月，选择脑梗死患者211例(病例组)和健康体检者201例(对照组)，应用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)检测PSMA6基因1233A/T位点单核苷酸多态性，并分析其基因型及等位基因频率在脑梗死患者和正常人群中的分布特点。 结果 两组CC、CT+TT基因型频率及C、T等位基因频率均无显著性差异(χ2 < 0.053, P > 0.05)。性别分层后，无论男性、女性，两组CC、CT、TT基因型频率和C等位基因频率均无显著性差异(χ2 < 2.735, P > 0.05)。 结论 PSMA6基因1233A/T位点可能与脑梗死的发病无关。
Objective To evaluate the relationship between 1233A/T polymorphism of proteasome subunit α type 6 (PSMA6) gene and cerebral infarction in Chinese Han population. Methods From January, 2012 to April, 2015, 211 cerebral infarction patients (case group) and 201 healthy controls (control group) were selected in the study. The single nucleotide polymorphism of 1233A/T of PSMA6 gene was identified by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP), and genotypes and allele frequency distributions in two groups were analyzed. Results The frequencies of CC, CT+TT genetype and the C allele all revealed no significant difference between two groups (χ2 < 0.053, P > 0.05). After stratified by gender, the difference among all genetypes and C allele were still not significant between two groups in either male or female (χ2 < 2.735, P > 0.05). Conclusion The 1233A/T of PSMA6 gene might not be associated with cerebral infarction.
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