Journal of Andrology
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Published-Ahead-of-Print January 22, 2009, DOI:10.2164/jandrol.108.006262

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Single Nucleotide Polymorphisms in PRDM9 (MEISETZ) in Patients with Nonobstructive Azoospermia

Shinji Irie , Aakira Tsujimura , Yasushi Miyagawa , Tomohiro Ueda , Yasuhiro Matsuoka , Yasuhisa Matsui , Akihiko Okuyama , Yoshitake Nishimune , and Hiromitsu Tanaka *

* To whom correspondence should be addressed. E-mail: h-tanaka{at}niu.ac.jp.

To investigate the possible association between variations in the PRDM9 (MEISETZ) gene and impaired spermatogenesis in humans, we screened for mutations in the human PRDM9 gene using DNA from 217 sterile male patients and 162 proven-fertile male volunteers. Two single nucleotide polymorphisms (SNPs), 17353G>T (Gly433Val) and 18109C>G (Thr685Arg), were identified, as well as an intronic SNP, 15549G>T. These were identified in the heterozygous state in separate patients with azoospermia. Neither variant was identified in the fertile subjects. Our results suggest that mutations in PRDM9 may cause idiopathic infertility in human males.


Key words: Fertility • Infertility • Sperm • Spermatogenesis • Testis






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