【摘要】 目的了解钙敏感受体(CaSR)基因单核苷酸多态性与特发性高钙尿(IH)症的关系, 探讨特发性高钙尿发病的分子机制。方法提取76例湖北地区汉族特发性高钙尿患者及126例继康对照者外周血标本中基因组DNA,应用聚合酶链反应(PCR)结合DNA测序方法检测并分析了CaSR基因的第7外显子3个簇集的多态性位点单核苷酸多态性分布。结果特发性高钙尿病例和对照组CaSR基因的第7外显子第986、990多态性位点等位基因频率分布均符合Hardy-Wein- berg定律,其基因型分布频率在特发性高钙尿患者和正常对照者中差异无统计学意义(P>0．05), 第1011位未见有多态改变。但特发性高钙尿组组内CaSR 990位GG纯合子和RG杂合子个体的 24 h尿钙排泄量较RR纯合子明显增高,差异有统计学意义(P<0．05)。结论 CaSR基因不是特发性高钙尿的易感主基因,但第7外显子990位A／G单核苷酸多态性能影响尿钙排泄,可能是特发性高钙尿中调节钙排泄的遗传成分之一。更多还原

【Abstract】 Objective To explore the association of the polymorphism of calcium-sensing receptor (CaSR) in the 986 and 990 codons in exon 7 with the risk of idiopathic hypercalciuria in the Han nationality in Hubei area, and to study the possible reason for IH. Methods A CaSR exon 7 containing the three clustered polymorphic loci were amplified by polymerase chain reaction from the leucocyte DNA of 76 patients with IH and 126 normal controls from the Han nationality in Hubei area, then direct sequencing was done. Results The frequencies distribution of A986S and R990 G alleles in this cohortall followed the Hardy-Weinberg equilibrium and the distribution of their genotypes had no statistically significant difference between IH patients and normal controls (P>0.05), but 990Gly allele had a significant association withthe increasing Ca excretion in IH patients (P< 0.05). Conclusion The present findings indicate that 990Gly allele polymorphism in the CaSR gene could be a component of the complex genetic background regulating Ca excretion in IH.更多还原