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Mol. Hum. Reprod. Advance Access originally published online on July 28, 2005
Molecular Human Reproduction 2005 11(7):513-515; doi:10.1093/molehr/gah202
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© The Author 2005. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oupjournals.org

Survey of the two polymorphisms in DAZL, an autosomal candidate for the azoospermic factor, in Japanese infertile men and implications for male infertility

Xin-Jun Yang1,2,4, Toshikatsu Shinka1,2, Shiari Nozawa2,3, Hong-Tao Yan1,2,4, Miki Yoshiike2,3, Mayumi Umeno1,2, Youichi Sato1,2, Gang Chen1,2, Teruaki Iwamoto2,3 and Yutaka Nakahori1,2,5

1Department of Human Genetics and Public Health, Graduate School of Medical Science, University of Tokushima, Tokushima-City, 2Core Research for Evolutional Science and Technology Corporation, Saitama, 3Department of Urology, St. Marianna Medical University School of Medicine, Kawasaki, Japan and 4School of Public Health, Wenzhou Medical College, Wenzhou, Zhejiang province 325035, China

5 To whom correspondence should be addressed at: Department of Human Genetics and Public Health, Graduate School of Medical Science, University of Tokushima, 3-18-15 Kuramoto-cho, Tokushima-City 770-8503, Japan. E-mail: nakahori{at}basic.med.tokushima-u.ac.jp

The DAZL (DAZ-like) gene is suggested to be an ancestral gene of the DAZ (deleted in azoospermia) gene on the Y chromosome, which is a strong candidate for the azoospermic factor. Recently, it has been reported that the T54A (Thr54->Ala) polymorphism in exon 3 of the DAZL gene is associated with spermatogenic failure in the Taiwanese population. In this study, to investigate whether this polymorphism is associated with spermatogenic failure in Japanese males, we analysed genomic DNA derived from 234 patients with azoospermia or oligozoospermia and 131 fertile controls. The T54A polymorphism was completely absent in both the patients and the controls. The T12A (Thr12->Ala) polymorphism in exon 2 of the DAZL gene was found at a similar frequency in the patients and controls, 15.4% and 13.7%, respectively (P = 0.67). However, the frequency of T12A was higher for the azoospermic (20.5%) than oligozoospermic (9.6%) individuals in infertile men without DAZ deletions, although statistical difference was not so apparent (x2 test: P = 0.037, OR = 2.413, 95% CI = 1.035–5.629; Yate’s x2 test: P = 0.058, OR = 2.319, 95% CI = 0.973–6.166). Our results show that the T54A polymorphism in DAZL has no major role in Japanese males with azoospermia or oligozoospermia. The distribution of the T54A polymorphism may be restricted to the narrow area including Taiwan.

Key words: azoospermia/DAZ/DAZL/oligozoospermia/Y chromosome


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