International Journal of Reproductive BioMedicine
Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences of Yazd
Vol. 12, No. 3, 2014, pp. 217-220
Bioline Code: rm14029
Full paper language: English
Document type: Short Communication
Document available free of charge
International Journal of Reproductive BioMedicine, Vol. 12, No. 3, 2014, pp. 217-220
© Copyright 2014 - Iranian Journal of Reproductive Medicine
New single nucleotide variation in the promoter region of androgen receptor (AR) gene in hypospadic patients|
Borhani, Nasim; Novin, Marefat Ghaffari; Manoochehri, Mehdi; Rouzrokh, Mohsen; Kazemi, Bahram; Koochaki, Ameneh; Hosseini, Ahmad; Farahani, Reza Masteri & Omrani, Mir Davood
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.
Hypospadias; Androgen receptor gene; Promoter
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