CYP17基因多态性与湖南汉族女性青春期后痤疮的相关性研究

Correlation between CYP17 gene polymorphisms and female postadolescent acne in Han population in Hunan Province

目的探讨雄激素相关基因CYP17多态性与湖南汉族女性青春期后痤疮的相关性。方法提取不伴雄激素升高组(A组)和伴雄激素升高组(B组)女性青春期后痤疮患者和女性正常人对照组(C组)的血DNA标本。设计引物通过PCR技术扩增出包括CYP17基因多态位点的片段,用限制性内切酶MspA1Ⅰ进行酶切鉴定产物。并经测序证实CYP17基因的3种基因型。结果 A组基因型A1A2频率、B组基因型A1A2频率间以及分别与C组基因型A1A2频率比较,没有显著性差异(P>0.05);A组基因型A2A2频率和C组基因型A2A2频率比较,没有显著性差异(P>0.05);B组基因型A2A2频率分别与A组基因型A2A2频率和C组基因型A2A2频率比较,有显著性差异(P<0.05)。结论 CYP17基因-34bp处T→C碱基置换的存在将增大患伴雄激素升高的女性青春期后痤疮的风险。

Objective To explore the correlation between androgen-related CYP17 gene polymorphisms and female postadolescent acne in Han population in Hunan Province. Methods The female patients with postadolescent acne and high levels of androgen （A group）, those without high levels of androgen （B group） and healthy subjects （C group） were enrolled. The CYP17 gene polymorphism was investigated by PCR using DNA samples from peripheral blood lymphocytes. The T→C transition in the risk allele （A2） produced a new recognition site for the restriction endonuclease MspA1 I. Three genotypes of androgen-related CYP17 gene （A1A1, A1A2, and A2A2） were determined and confirmed by sequencing. Results The frequency of the A1A2 gene was similar in the cases and controls （P0.05）. The frequency of A2A2 gene was not significantly different between groups A and C （P0.05）. The frequency of A2A2 gene was significantly different between groups A and B and between groups B and C （P0.05）. Conclusion The presence of base substitution in androgen-related CYP17 gene at-34 bp （T→C） increases the risk of postadolescent acne in female subjects with increased androgen levels.