摘要
目的探讨雌激素受体β(ERβ)基因限制性内切酶RsaⅠ酶和AluⅠ酶切多态性在广西籍汉族女性系统性红斑狼疮(SLE)患者中的分布特点。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,对78例女性SLE患者及100例女性正常对照者的ERβ基因AluⅠ、RsaⅠ位点进行分型,分析其基因分布情况以及临床表现与基因多态性之间的关系。结果ERβ基因型分布及等位基因频率在广西籍汉族女性SLE患者和正常对照者之间比较差异均无统计学意义(P>0.05)。RsaⅠ位点的RR型SLE患者出现狼疮性肾炎(LN)的频率以及AluⅠ位点的Aa型SLE患者出现颊部红斑的频率较其他基因型患者明显增高,差异有统计学意义(P<0.05)。结论ERβ基因RsaⅠ酶和AluⅠ酶切多态性在广西籍汉族女性SLE患者和正常人中的分布差异无统计学意义;RR基因型可能与广西籍汉族女性LN的发生相关,Aa基因型可能与患者出现颊部红斑有关。
Objective To investigate the distribution of estrogen receptor-β（ERβ） gene polymorphisms in female patients with systemic lupus erythematosus（SLE） in Guangxi province（all Han people）,and discuss the relationship between ERβ gene polymorphisms and their clinical presentations. Methods Rsa Ⅰ and Alu Ⅰ restriction fragment length polymorphisms（RFLP） of ERβ gene were performed in 78 female patients with SLE and 100 female controls by using PCR-RFLP technique. The relationship between different ERβ genotypes and their clinical presentations was analyzed. Results There were no significant differences in frequencies of genotype and allele of ERβ between the Han ethinic patients with SLE and controls（ P 〉0.05）. But, the frequency of the RR genotype was significantly higher than the that of other genotypes in the patients with lupus nephritis（LN）, and so did the Aa genotype in patients with erythema on cheeks（ P 〈0.05）. Conclusion There are no significant differences in the frequencies of genotypes and alleles of Rsa Ⅰ and Alu Ⅰ in ERβ between female patients with SLE and female controls in Guangxi province（all Han people） ,but the RR genotype may be associated with the susceptibility of LN in female patients,and the probability of this kind of clinical presentation of SLE-erythema on cheeks may be related to Aa genotype.
出处
《临床荟萃》
CAS
北大核心
2008年第20期1467-1470,共4页
Clinical Focus
关键词
红斑狼疮
系统性
受体
雌激素
多态性
单核苷酸
lupus erythematosus, systemic
receptor, estrogen
polymorphism, single nucleotide
