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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。
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 .
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。
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 .