雄激素受体基因(CAG)n重复多态性与先天性尿道下裂的关系

Relationship Between CAG Polymorphism in Androgen Receptor Gene and Congenital Hypospadias

目的了解雄激素受体基因(CAG)n重复多态性与先天性尿道下裂的形成的关系。方法应用PCR技术提取26例先天性尿道下裂患儿和20例对照组男性雄激素受体基因第一外显子中含(CAG)n重复多态性的DNA片段,运用DNA自动测序准确了解CAG重复次数。比较两组间CAG重复片段的均数差别。结果尿道下裂组和对照组间CAG重复片段有显著差异,并发现2例尿道下裂患儿CAG重复片段为38及42。结论雄激素受体基因第一外显子上CAG重复多态性与尿道下裂的发生可能存在一定关系。

Objective To comprehend the relationship between(CAG)n polymorphism in androgen receptor gene and the formation of congenital hypospadias.Methods The DNA segments containing(CAG)n polymorphism were extracted from26hypospadias patients and20males controls by using PCR technique.Then DNA automatic sequencing was used to learn the exact number of CAG repeats.Mean values of these two groups were compared.Results There was significant difference of CAG repeats between these two groups.CAG repeats in two hypospadias patients were38and42respectively.Conclusions These findings suggest that there is a relationship between CAG polymorphism in exon1of androgen receptor gene and the formation of hypospadias.