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Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population
  1. Barbara Arredi*,1,
  2. Alberto Ferlin*,1,
  3. Elena Speltra1,
  4. Chiara Bedin1,
  5. Daniela Zuccarello1,
  6. Francesco Ganz1,
  7. Eleonora Marchina1,
  8. Liborio Stuppia3,
  9. Csilla Krausz4,
  10. Carlo Foresta1
  1. 1Department of Histology, Microbiology and Medical Biotechnologies, Centre for Male Gamete Cryopreservation, University of Padova, Padova, Italy
  2. 2Department of Biomedical Sciences and Biotechnologies, University of Brescia, Brescia, Italy
  3. 3“G d’Annunzio” University Foundation, Department of Biomedical Sciences and Aging Research Centre, Chieti-Pescara, Italy
  4. 4Department of Clinical Physiopathology, Andrology Unit, University of Firenze, Firenze, Italy
  1. Correspondence to:
 Professor C Foresta
 Department of Histology, Microbiology and Medical Biotechnologies, Centre for Male Gamete Cryopreservation, University of Padova, Via Gabelli 63, 35121 Padova, Italy; carlo.foresta{at}


Background: A limited number of studies aimed at investigating the possible association of Y-chromosome haplogroups with microdeletions of the azoospermia factors (AZFs) or with particular infertile phenotypes, but definitive conclusions have not been attained. The main confounding elements in these association studies are the small sample sizes and the lack of homogeneity in the geographical origin of studied populations, affecting, respectively, the statistical power and the haplogroup distribution.

Materials and methods: To assess whether some Y-chromosome haplogroups are predisposing to, or protecting against, azoospermia factor c (AZFc; b2/b4) deletions, 31 north Italian patients carrying the AZFc b2/b4 microdeletion were characterised for 8 Y-chromosome haplogroups, and compared with the haplogroup frequency shown by a north Italian population without the microdeletion (n = 93).

Results and discussion: A significant difference was observed between the two populations, patients with microdeletions showing a higher frequency of the E haplogroup (29.3% vs 9.7%, p<0.01). The geographical homogeneity of the microdeleted samples and of the control population, controlled at microgeographical level, allows the possibility that the geographical structure of the Y genetic variability has affected our results to be excluded.

Conclusion: Thus, it is concluded that in the north Italian population Y-chromosome background affects the occurrence of AZFc b2/b4 deletions.

  • AZF, azoospermia factor
  • AZFc, azoospermia factor c
  • DHPLC, denaturing high performance liquid chromatography
  • STS, sequence-tagging site

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  • Published Online First 8 December 2006

  • * These authors equally contributed to the study.

  • Competing interests: None declared.