PMID: 11331662May 2, 2001Paper

Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis

Molecular Human Reproduction
K MuroyaT Ogata

Abstract

We report on mutation screening and CAG repeat length analysis of the androgen receptor (AR) gene in 21 patients with hypospadias. The urethral meatus was located at the glandular region in six patients (glandular type), at the penile shaft in seven patients (penile type), and at the scrotal/perineal region in eight patients (scrotal/perineal type). Mutation screening was performed for exons 1-8 and their flanking introns (except for the CAG and GGC repeat regions at exon 1) by the heteroduplex detection method and showed no abnormal chromatograms. The CAG repeat length analysis was carried out using 50 normal boys and 50 fertile males as controls, and demonstrated no statistically significant difference in the median of CAG repeat lengths or in the frequency of long CAG repeats (> or = 26 or > or = 28) between the controls and the patients with the three different types of hypospadias. The results suggest that AR gene abnormalities do not constitute a major factor in the development of hypospadias.

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Citations

Mar 1, 2012·Human Reproduction Update·L F M van der ZandenN Roeleveld
Nov 22, 2012·BMC Medical Genetics·Tatjana Adamovic, Agneta Nordenskjöld
Dec 27, 2013·Asian Journal of Andrology·Konstantin SvechnikovOlle Söder
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Feb 10, 2006·International Journal of Andrology·Aleksander GiwercmanYvonne Lundberg Giwercman
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Dec 15, 2020·Arab Journal of Urology·Coriness Piñeyro-RuizJuan Carlos Jorge
Aug 6, 2002·Molecular and Cellular Endocrinology·Paola FerroUlrich Pfeffer

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