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

Citation
K. Muroya et al., Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis, MOL HUM REP, 7(5), 2001, pp. 409-413
Citations number
23
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Cell & Developmental Biology
Journal title
MOLECULAR HUMAN REPRODUCTION
ISSN journal
1360-9947 → ACNP
Volume
7
Issue
5
Year of publication
2001
Pages
409 - 413
Database
ISI
SICI code
1360-9947(200105)7:5<409:HATARG>2.0.ZU;2-N
Abstract
We report on mutation screening and CAG repeat length analysis of the andro gen receptor (AR) gene in 21 patients with hypospadias. The urethral meatus was located at the glandular region in six patients (glandular type), at t he penile shaft in seven patients (penile type), and at the scrotal/perinea l 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 show ed no abnormal chromatograms, The CAG repeat length analysis was carried ou t using 50 normal boys and 50 fertile males as controls, and demonstrated n o statistically significant difference in the median of CAG repeat lengths or in the frequency of long CAG repeats (greater than or equal to 26 or gre ater than or equal to8) between the controls and the patients with the thre e different types of hypospadias. The results suggest that AR gene abnormal ities do not constitute a major factor in the development of hypospadias.