J Med Genet 40:18-24 doi:10.1136/jmg.40.1.18
  • Original article

The human Y chromosome’s azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men

  1. A Ferlin1,
  2. E Moro1,
  3. A Rossi1,
  4. B Dallapiccola2,
  5. C Foresta1
  1. 1University of Padova, Department of Medical and Surgical Sciences, Clinica Medica 3, Centre for Male Gamete Cryopreservation, Via Ospedale 105, 35128 Padova, Italy
  2. 2University of Roma “La Sapienza”, Institute of Medical Genetics and Institute CSS-Mendel, Viale Regina Margherita 261, 00198 Roma, Italy
  1. Correspondence to:
 Professor C Foresta, University of Padova, Department of Medical and Surgical Sciences, Clinica Medica 3, Via Ospedale 105, 35128 Padova, Italy;
  • Accepted 13 September 2002
  • Revised 13 September 2002


Microdeletions of the Y chromosome long arm are the most common mutations in infertile males, where they involve one or more “azoospermia factors” (AZFa, b, and c). Understanding of the AZF structure and gene content and mapping of the deletion breakpoints in infertile men are still incomplete. We have assembled a complete 4.3 Mb map of AZFb and surrounding regions by means of 38 BAC clones. The proximal part of AZFb consists of large repeated sequences organised in palindromes, but most of it is single copy sequence. A number of known and novel genes and gene families map in this interval, and most of them are testis specific or have testis specific transcripts. STS mapping allowed us to identify four severely infertile subjects with a deletion in AZFb with similar breakpoints, therefore suggesting a common deletion mechanism. This deletion includes at least five single copy genes and two duplicated genes, but does not remove the historical AZFb candidate gene RBMY1. These data suggest that other genes in AZFb may have important roles in spermatogenesis. We had no evidence for homologous recombination between large repeats as a possible deletion mechanism, as shown for AZFa and AZFc. However, identical sequences in AZFb and AZFc exist, and this finding could explain deletions found in these regions.