Volume 12, Issue 3 (4-2014)                   IJRM 2014, 12(3): 217-220 | Back to browse issues page

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Borhani N, Ghaffari Novin M, Manoochehri M, Rouzrokh M, Kazemi B, Koochaki A, et al . New single nucleotide variation in the promoter region of androgen receptor (AR) gene in hypospadic patients. IJRM 2014; 12 (3) :217-220
URL: http://ijrm.ir/article-1-515-en.html
New single nucleotide variation in the promoter region of androgen receptor (AR) gene in hypospadic patients
Nasim Borhani1 , Marefat Ghaffari Novin1 , Mehdi Manoochehri1 , Mohsen Rouzrokh2 , Bahram Kazemi1 , Ameneh Koochaki1 , Ahmad Hosseini1 , Reza Masteri Farahani3 , Mir Davood Omrani * 4
1- Cellular and Molecular Biology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2- Department of Pediatric Surgery, Mofid Children's Hospital, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3- Department of Cell Biology and Anatomy, School of Medicine Shahid Beheshti University of Medical Sciences, Tehran, Iran
4- Department of Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran , davood_omrani@sbmu.ac.ir
Abstract:   (2675 Views)
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.
Keywords: Hypospadias, Androgen receptor gene, Promoter
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Type of Study: Original Article |
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