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目的 研究 2 1-羟化酶基因 (CYP2 1)第 1外显子 2 7ins CTG(10 ins L )的发生率及其与先天性肾上腺皮质增生症 (congenital adrenal hyperplasia,CAH)不同临床分型的关系。方法 PCR扩增 ,Kpn 限制性内切酶消化验证 PCR产物为特异性扩增 ,巢式 PCR扩增和 DNA测序 ,用 10 %聚丙烯酰胺凝胶电泳筛查第 1外显子 2 7ins CTG的发生率。结果 DNA测序证实在第 1外显子 2 7位存在 2种等位基因类型 :CTG插入为 型 ;无 CTG插入为 型。等位基因 型和 型的频率 CAH患者分别为 77.8%、2 2 .2 % ;5 0名正常对照者则为 83%、17% ,两组人群中基因型与等位基因频率差异无显著性。 CAH患者中 ,12例失盐型与 15例非失盐型等位基因频率 型和 型分别为 91.7%、8.3%及 6 6 .7%、33.3% ,两组中基因频率分布差异有显著性 (P<0 .0 5 )。结论 中国人 CYP2 1基因外显子 1存在 2 7ins CTG多态性 ,其基因频率在正常对照组与 CAH组中差异无显著性。
Objective To investigate the incidence of 2 insins of exon 2 of 1-hydroxylase gene (CYP2 1) and its relationship with congenital adrenal hyperplasia (CAH) relationship. Methods PCR amplification and Kpn restriction endonuclease digestion were used to confirm the PCR product was specific amplification, nested PCR amplification and DNA sequencing. The 7 exon 2 7ins CTG was screened by 10% polyacrylamide gel electrophoresis Occurrence rate. Results DNA sequencing confirmed that there were two types of alleles at position 27 of exon 1: CTG insert type and no CTG insert type. The frequency of allele and genotype CAH were 77.8% and 22.2%, respectively. The prevalence of genotype and allele in 50 normal controls was 83% and 17% respectively . Among the CAH patients, the frequency and type of 12 salt-losing and 15 non-salt-losing alleles were 91.7%, 8.3% and 66.7%, 33.3%, respectively. There was significant difference in gene frequency between the two groups (P <0. 05). Conclusion There is a 2 7 -in-CTG polymorphism in the exon 1 of CYP2 1 gene in Chinese. There is no significant difference in the gene frequency between the normal control group and the CAH group.