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目的:探讨维生素D受体(VDR)基因B/b多态性与慢性肾功能衰竭(CRF)继发性甲状旁腺功能亢进的关系。方法:慢性肾衰患者108例,分为二组①高全段甲状旁腺素(iPTH)组:61例,iPTH>60pmol/L;②低iPTH组:47例,iPTH<12pmol/L。正常健康对照59例。采用酚氯仿法提取外周血DNA,多聚酶链反应法扩增VDR基因第8内含子目的片段,BsmI酶消化PCR产物,经2%琼脂糖溴乙锭凝胶电泳,紫外灯下观察结果。结果:维生素D基因型的分布在正常人群为BB型9例(152%),Bb型26例(441%),bb型24例(407%);在慢性肾衰高iPTH组BB型6例(98%),Bb型22例(361%),bb型33例(541%);低iPTH组BB型11例(234%),Bb型20例(426%),bb型16例(340%)。正常人群与CRF患者BB、Bb、bb基因型及B、b等位基因分布无明显差异(P>005);而CRF高iPTH组与低iPTH组相比,BB基因型和B等位基因的频率明显减低(P<005);bb基因型和b等位基因的频率明显升高(P<005)。结论:中国汉族CRF患者不同iPT?
Objective: To investigate the relationship between vitamin B receptor (VDR) gene B / b polymorphism and secondary hyperparathyroidism in chronic renal failure (CRF). Methods: One hundred and eight patients with chronic renal failure were divided into two groups: ① high total parathyroid hormone (iPTH) group: 61 cases, iPTH> 60 pmol / L; ② low iPTH group: 47 cases and iPTH <12 pmol / L. 59 cases of normal healthy control. Peripheral blood DNA was extracted by phenol-chloroform method. The target fragment of exon 8 of VDR gene was amplified by polymerase chain reaction. The PCR product was digested by BsmI enzyme and observed under UV light by 2% agarose ethidium bromide gel electrophoresis. Results: There were 9 cases (152%) of BB genotype, 26 cases (441%) of Bb genotype and 24 cases (407%) of bb genotype in the normal population. In the patients with chronic renal failure There were 6 cases (98%) in BB genotype in iPTH group, 22 cases (361%) in Bb genotype, 33 cases (541%) in bb type, 11 cases (234%) in BB genotype in low iPTH group, 20 cases (426%), bb type 16 cases (340%). There was no significant difference in genotypes of BB, Bb, bb and B and B alleles between normal subjects and patients with CRF (P> 0.05), while BB genotypes and B alleles of CRP high iPTH group and low iPTH group (P <005). The frequencies of bb genotype and b allele were significantly increased (P <005). Conclusion: Chinese Han CRF patients with different iPT?