NEW SINGLE NUCLEOTIDE VARIATION IN THE PROMOTER REGION OF ANDROGEN RECEPTOR (AR) GENE IN HYPOSPADIC PATIENTS

Iranian journal of reproductive medicine

GHAFFARI NOVIN MAREFAT¹  KAZEMI BAHRAM¹  BORHANI NASIM¹  MASTERI FARAHANI REZA¹  MANOOCHEHRI MEHDI¹  ROUZROKH MOHSEN¹  KOOCHAKI AMENEH¹  OMRANI MIR DAVOOD¹  HOSSEINI AHMAD¹ 

关键词: HYPOSPADIAS;    ANDROGEN RECEPTOR GENE;    PROMOTER;   

DOI  :  

学科分类：药学、药理学、毒理学（综合）

来源: Shahid Sadoughi University of Medical Sciences, Yazd

【 摘 要 】

Background: Hypospadias is one of the most common congenital abnormalities in the male which is characterized by altered development of urethra, foreskin and ventral surface of the penis. Androgen receptor gene plays a critical role in the development of the male genital system by mediating the androgens effects.Objective: In present study, we looked for new variations in androgen receptor promoter and screened its exon 1 for five single nucleotide polymorphisms (SNP) in healthy and hypospadias Iranian men.Materials and Methods: In our study, at first DNA was extracted from patients (n=100) and controls (n=100) blood samples. Desired fragments of promoter and exon 1 were amplified using polymerase chain reaction. The promoter region was sequenced for the new variation and exone 1 screened for five SNPs (rs139767835, rs78686797, rs62636528, rs62636529, rs145326748) using restriction fragment length polymorphism technique.Results: The results showed a new single nucleotide variation (C?T) at -480 of two patients’ promoter region (2%). None of the mentioned SNPs were detected in patients and controls groups (0%).Conclusion: This finding indicates that new single nucleotide polymorphism in androgen receptor promoter may have role in etiology of hypospadias and development of this anomaly.

【 授权许可】

Unknown