广西壮族IgA肾病TCRCα-575A/G基因多态性的研究

Relationship of TCRCα gene-575A/G polymorphism with IgA nephropathy in Chinese Zhuang minority group

目的探讨广西壮族IgA肾病患者TCRCα基因-575A/G多态性在分子遗传学中的意义。方法 PCR-RFLP法及基因直接测序法分析基因型及等位基因分布规律,同时收集治疗前一般临床指标和患者的病理资料,进行病例对照研究与临床及病理资料分析。结果广西壮族IgA肾病组与正常对照组比较,TCRCα基因3种基因型和2种等位基因的分布差异无显著性(P>0.05)。临床资料显示:肉眼血尿在各基因型间发生率差异有显著性(P<0.05),AG型出现的发生率比AA、GG型高;血清肌酐、尿酸水平在各基因型间差异有显著性(P<0.05),AG型的血清肌酐水平高于AA型、GG型的血清尿酸水平高于AG型。病理资料显示:3个基因型的患者组在3种病理分组的分布差异有显著性(P<0.05),各基因型均以Ⅲ+Ⅳ级所占比例最多。结论 TCRCα-575A/G基因多态性与等位基因可能和广西壮族人IgA肾病的遗传易感性不相关、可能与肌酐、尿酸水平、肉眼血尿的发生以及增殖性肾小球改变相关。

【Objective】To investigate the molecular genetic significance of TCRCα-575A/G gene polymorphism in IgA nephropathy patients among Chinese Zhuang minority group.【Methods】Guangxi Zhuang minority group was divided into two groups,IgA nephropathy and normal control group.Genotype and allele distribution of TCRCα575A/G were analyzed by polymerase chain reaction-restriction fragment length polymorphism analysis（PCRRFLP） and DNA direct sequencing technique.The patients＇clinical data of pre-treatment were collected,case-control study was performed,clinical and pathological data were analyzed.【Results】①A,G two alleles of TCRCα575A/G were detected in Chinese Zhuang minority group with AG IgA nephropathy and the control group,each ratio of A = 43.42%,G = 56.58%;three portfolio types were AA,AG and GG genotypes,the proportion of AA=25.81%,AG = 35.48%,GG = 38.71%.②Comparing Guangxi Zhuang nationality group with IgA nephropathy group and normal control group,no significant differences were observed between the three genotypes of TCRCα gene distributions and two kinds of alleles（P〉0.05）.③ Clinical data showed that there were significant differences between genotypes（P〈0.05） in gross hematuria,the probability of emergence in AG genotype was larger than that in AA and GG genotypes.There were significant differences between genotypes（P〈0.05） in serum creatinine and uric acid levels.④ Pathological data showed that there were significant differences（P〈0.05） in the distribution frequency of the threegenotypes in three pathological grades;the frequency of distribution of grade Ⅲ and Ⅳ in IgA nephropathy Haasclass was higher than that of grade I andⅡ.【Conclusion】①TCRCα-575A/G gene polymorphism and allele might not relate to genetic susceptibility of IgA nephropathy in Guangxi Zhuang minority group.②TCRCα-575A /G gene polymorphism may be associated with related to the level of serum uric acid in Guangxi Zhuang minority group with IgA nephropathy.③TCRCα-575A/G gene polymorphism might be related with occurrence of gross hematuria of Guangxi Zhuang minority group with IgA nephropathy.④TCRCα-575A/G gene polymorphism may be involved with proliferative glomerulonephritis of Guangxi Zhuang nationality with IgA nephropathy.