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Title: AZFc deletions and spermatogenic failure: A population-based survey of 20,000 y chromosomes
Authors: Rozen, S.G. 
Marszalek, J.D.
Irenze, K.
Skaletsky, H.
Brown, L.G.
Oates, R.D.
Silber, S.J.
Ardlie, K.
Page, D.C.
Issue Date: 2-Nov-2012
Citation: Rozen, S.G., Marszalek, J.D., Irenze, K., Skaletsky, H., Brown, L.G., Oates, R.D., Silber, S.J., Ardlie, K., Page, D.C. (2012-11-02). AZFc deletions and spermatogenic failure: A population-based survey of 20,000 y chromosomes. American Journal of Human Genetics 91 (5) : 890-896. ScholarBank@NUS Repository.
Abstract: Deletions involving the Y chromosome's AZFc region are the most common known genetic cause of severe spermatogenic failure (SSF). Six recurrent interstitial deletions affecting the region have been reported, but their population genetics are largely unexplored. We assessed the deletions' prevalence in 20,884 men in five populations and found four of the six deletions (presented here in descending order of prevalence): gr/gr, b2/b3, b1/b3, and b2/b4. One of every 27 men carried one of these four deletions. The 1.6 Mb gr/gr deletion, found in one of every 41 men, almost doubles the risk of SSF and accounts for ∼2% of SSF, although
Source Title: American Journal of Human Genetics
ISSN: 00029297
DOI: 10.1016/j.ajhg.2012.09.003
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