title: Association of spermatogenic failure with the b2/b3 partial AZFc deletion.
abstract: Infertility affects around 1 in 10 men and in most cases the cause is unknown. The Y chromosome plays an important role in spermatogenesis and specific deletions of this chromosome, the AZF deletions, are associated with spermatogenic failure. Recently partial AZF deletions have been described but their association with spermatogenic failure is unclear. Here we screened a total of 339 men with idiopathic spermatogenic failure, and 256 normozoospermic ancestry-matched men for chromosome microdeletions including AZFa, AZFb, AZFc, and the AZFc partial deletions (gr/gr, b1/b3 and b2/b3).AZFa and AZFc deletions were identified in men with severe spermatogenic failure at similar frequencies to those reported elsewhere. Gr/gr deletions were identified in case and control populations at 5.83% and 6.25% respectively suggesting that these deletions are not associated with spermatogenic failure. However, b2/b3 deletions were detected only in men with spermatogenic failure and not in the normospermic individuals. Combined with our previous data this shows an association of the b2/b3 deletion (p = 0.0318) with spermatogenic failure in some populations. We recommend screening for this deletion in men with unexplained spermatogenic failure.
authors.affiliation: Human Genetic Unit, Research Department, Pasteur Institute, Casablanca, Morocco. abdelmajideloualid@yahoo.fr
authors.forename: Abdelmajid
authors.initials: A
authors.lastname: Eloualid
authors.forename: Houria
authors.initials: H
authors.lastname: Rhaissi
authors.forename: Ahmed
authors.initials: A
authors.lastname: Reguig
authors.forename: Safaa
authors.initials: S
authors.lastname: Bounaceur
authors.forename: Brahim
authors.initials: B
authors.lastname: El Houate
authors.forename: Omar
authors.initials: O
authors.lastname: Abidi
authors.forename: Majida
authors.initials: M
authors.lastname: Charif
authors.forename: Noureddine
authors.initials: N
authors.lastname: Louanjli
authors.forename: Elbakkay
authors.initials: E
authors.lastname: Chadli
authors.forename: Abdelhamid
authors.initials: A
authors.lastname: Barakat
authors.forename: Anu
authors.initials: A
authors.lastname: Bashamboo
authors.forename: Ken
authors.initials: K
authors.lastname: McElreavey
authors.forename: Hassan
authors.initials: H
authors.lastname: Rouba
mesh_terms: D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007248:Infertility, Male / Q000235:genetics; D008297:Male; D013091:Spermatogenesis / Q000235:genetics*