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目的了解降钙素受体(CTR)基因单核苷酸多态性与特发性高钙尿症的关系,探讨特发性高钙尿的发病机理。方法提取湖北地区76例汉族特发性高钙尿患者及126例健康对照者外周血标本基因组DNA,应用聚合酶链反应-限制性片段长度多态性方法检测并分析CTR基因核苷酸序列1377位点C/T单核苷酸多态性分布。结果2组标本CTR基因C/T多态性位点等位基因频率分布均符合Hardy-Weinberg定律,患者组CC、TC、TT基因型分布频率分别为73．7%、17．1%、9．2%,对照组分别为89．7%、9．5%、0．8%；2组等位基因C、T分布频率分别为84．2%、15．8%和94．4%、5．6%,患者组等位基因T和TT基因型分布频率高于对照组,而等位基因C和CC基因型的分布频率低于对照组,差异有统计学意义(P＜0．05)。结论CTR基因1377多态性位点C/T单核苷酸多态性在湖北地区汉族人群特发性高钙尿的发生中起重要作用。
Objective To understand the relationship between single nucleotide polymorphism of calcitonin receptor (CTR) gene and idiopathic hypercalciuria and to explore the pathogenesis of idiopathic hypercalciuria. Methods The genomic DNA of peripheral blood samples of 76 Han idiopathic hypercalciuria patients and 126 healthy controls in Hubei province were extracted. The nucleotide sequence of CTR gene 1377 was detected and analyzed by polymerase chain reaction - restriction fragment length polymorphism Site C / T single nucleotide polymorphism distribution. Results The frequency distributions of allele frequencies of C / T polymorphism sites in CTR gene of two groups of patients all accorded with Hardy-Weinberg law. The distribution frequencies of CC, TC and TT genotypes were 73.7%, 17.1%, 9 .2% in control group and 89.7%, 9.5% and 0.8% in control group respectively. The distribution frequency of C and T in two groups were 84.2%, 15.8% and 94.4% respectively, 5.6%. The frequencies of allele T and TT genotypes in patients were higher than those in controls, but allele C and CC genotype frequencies were lower than those in control group (P <0.05 ). Conclusion C / T SNP at the 1377 polymorphic site of CTR gene plays an important role in the occurrence of idiopathic hypercalciuria in Han population in Hubei Province.