新疆地区维、汉族缺血性脑卒中患者磷酸二酯酶4D基因单核苷酸多态性的研究

目的探讨新疆地区维、汉族缺血性脑卒中患者磷酸二酯酶4D(PDE4D)基因87位点的单核苷酸多态性(SNP)。方法采用PCR限制性片段长度多态性(PCR-RFLP)和基因测序方法检测226例缺血性脑卒中患者(病例组,维族110例,汉族116例)和220例无神经系统疾病的患者(对照组,维族102例,汉族118例)PDE4D基因87位点的多态性。对各组基因型分布和等位基因频率进行比较。结果病例组与对照组PDE4D基因87位点的基因型分布比较,差异无统计学意义;病例组PDE4D基因87位点C等位基因频率明显高于对照组(P<0.05)。病例组维族亚组PDE4D基因87位点CC型的比率及C等位基因频率明显高于对照组维族亚组(均P<0.05);病例组汉族亚组PDE4D基因87位点CC型的比率及C等位基因频率明显高于对照组汉族亚组(均P<0.05)。病例组中,维族亚组与汉族亚组PDE4D基因87位点的基因型分布及等位基因频率比较,差异无统计学意义;对照组中,维族亚组与汉族亚组PDE4D基因87位点的基因型分布及等位基因频率比较,差异亦无统计学意义。结论 PDE4D基因87位点C等位基因频率增高可能增加缺血性脑卒中发生的风险,此风险在新疆地区维、汉族人群中没有差异。

Investigation on the single-nucleotide polymorphism of phosphodiesterase 4D gene in Uygur and Han patients with ischemic stroke in Xinjiang district

Objective To investigate the single-nucleotide polymorphism(SNP) in 87 site of phos-phodiesterase 4D(PDE4D) gene in Uygur and Han patients with ischemic stroke in Xinjiang district.Methods The gene polymorphism of 87 site of PDE4D gene in 226 patients with ischemic stroke(case group,110 cases of Uygur,116 cases of Han) and 220 patients without neurological disease(control group,102 cases of Uygur,118 cases of Han) were detected by PCR restriction fragment length polymorphism(PCR-RFLP) and gene sequencing method.The genotype and allele frequency of all the groups were compared with each other.Results There was no significant difference of genotypes of PDE4D gene 87 site between the case group and the control group.The C allele frequency in case group was significantly higher than that in the control group(P<0.05).The CC genotype and C allele frequency in Uygur subgroup of case group were obviously higher than that in Uygur subgroup of control group(all P<0.05);and the CC genotype and C allele frequency in Han subgroup of case group were obviously higher than that in Han subgroup of control group(all P<0.05).In the case group,there was no significant difference of PDE4D gene 87 site genotypes and allele frequency between Uygur subgroup and Han subgroup.And in the control group,there was no significant difference of PDE4D gene 87 site genotypes and allele frequency between Uygur subgroup and Han subgroup.Conclusions The increase of C allele frequency of PDE4D gene 87 site may increase the risk of ischemic stroke.And the risk is not different between Uygur and Han population in Xinjiang district.