慢性肾衰竭继发性甲旁亢患者中CaSR基因intron 5多态性的研究

为研究中国江苏汉族人中钙敏感受体(calcium-sensing receptor，CaSR)基因单核苷酸多态性与慢性肾衰竭(chronic renal failure，CRF)继发性甲旁亢(secondary hyperparathyroidism，SHPT)的关系．为此采集江苏省122例慢性肾衰竭继发性甲旁亢(CRF-SHFT)患者及25例正常人血液样本，通过PCR-RFLP的方法分析CaSR基因内含子5(intron5)BseR Ⅰ多态性；以标准方法测定血清钙、血清磷、血清全段甲状旁腺素(intact PTH,iPTH)3项生理指标；对检测的结果进行统计分析．结果发现，CRF-SHPT患者intron 5多态性频率与正常人没有明显差异；汉族人intron5多态性频率与其它种族有显著差异；TT基因型患者的Ca^2 、iPTH的血清浓度显著低于CC基因型的浓度，结论：CaSR基因intron5多态性频率具有种族差异性；intron5多态性与Ca^2 、iPTH的血清水平密切相关，影响CRF-SHFT病情的严重程度。

Analysis of Intron 5 SNP of Calcium-sensing Receptor Gene in the CRF-SHPT Patients

In order to investigate the relationship between the polymorphism of calcium-sensing receptor (CaSR) gene and chronic renal failure-secondary hyperparathyroidism(CRF-SHPT)in Chinese from Jiangsu province, we analyze the intron 5 single nucleotide polymorphism (SNP) of CaSR gene in 122 CRF-SHPT patients and 25 normal persons with PCR-RFLP, and assay the serum levels of calcium, phosphorus and intact PTH (iPTH) by standard methods. All the data are analyzed by statistical method. There is no significant difference between the CRF-SHPT patients and normal persons in genotypic frequency of intron 5. The genotypic frequency of intron 5 in the Han nationality is significantly different from that in other nationalities. The TT group shows significantly lower serum levels of intact PTH and Ca~(2 ) than the CC group. Ethnic differences exist in the intron 5 polymorphism. The intron 5 polymorphism of CaSR gene are closely associated with the serum levels of PTH and calcium as well as the clinical severity CRF-SHPT patients.