title: 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.
  
  
  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%).
  
  
  CONCLUSIONS
  This finding indicates that new single nucleotide polymorphism in androgen receptor promoter may have role in etiology of hypospadias and development of this anomaly. This article extracted from Ph.D. thesis. (Nasim Borhani).
authors.affiliation: Cellular and Molecular Biology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. ; Department of Cell Biology and Anatomy, School of Medicine Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Nasim
authors.initials: N
authors.lastname: Borhani
authors.affiliation: Cellular and Molecular Biology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. ; Department of Cell Biology and Anatomy, School of Medicine Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Marefat
authors.initials: M
authors.lastname: Ghaffari Novin
authors.affiliation: Cellular and Molecular Biology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mehdi
authors.initials: M
authors.lastname: Manoochehri
authors.affiliation: Department of Pediatric Surgery, Mofid Children's Hospital, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mohsen
authors.initials: M
authors.lastname: Rouzrokh
authors.affiliation: Cellular and Molecular Biology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Bahram
authors.initials: B
authors.lastname: Kazemi
authors.affiliation: Cellular and Molecular Biology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Ameneh
authors.initials: A
authors.lastname: Koochaki
authors.affiliation: Cellular and Molecular Biology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Ahmad
authors.initials: A
authors.lastname: Hosseini
authors.affiliation: Department of Cell Biology and Anatomy, School of Medicine Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Reza
authors.initials: R
authors.lastname: Masteri Farahani
authors.affiliation: Department of Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mir Davood
authors.initials: MD
authors.lastname: Omrani
keywords: Androgen receptor gene; Hypospadias; Promoter