New single nucleotide variation in the promoter region of androgen receptor (AR) gene in hypospadic patients.

ABSTRACT:

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

SUBMITTER: Borhani N 

PROVIDER: S-EPMC4009577 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature