Y-chromosome haplotypes in azoospermic Israeli men

C. M.B. Carvalho*, J. L. Rocha, F. R. Santos, S. E. Kleiman, G. Paz, H. Yavetz, S. D.J. Pena

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


Among azoospermic and severely oligozoospermic men, 7-15% present microdeletions of a region on the long arm of the Y chromosome that has been called AZF (azoospermia factor). Because these deletions present varying relative frequencies in different populations, we decided to ascertain whether their presence was correlated with specific Y-chromosome haplotypes. For that, we evaluated 51 infertile Israeli men, 9 of whom had microdeletions in AZF. Haplotypes were identified using a hierarchical system with eight biallelic DNA markers. We also checked for the presence of the deletion marker 50f2/C, which was absent in all seven patients with isolated AZFc deletion and also in the one patient with isolated AZFb deletion, suggesting that these microdeletions overlap. As expected, haplogroup J was the most common (47%), followed by equal frequencies of haplogroups Y*(xDE, J, K), P*(xR1a, R1b8), K*(xP), and E. In six patients with AZFc deficiencies of comparable size, three belonged to haplogroup J, two belonged to haplogroup P*(xR1a, R1b8), and one belonged to haplogroup R1a. Also, there were no significant differences in the haplotype frequencies between the groups with and without microdeletions. Thus we did not identify any association of a specific haplogroup with predisposition to de novo deletion of the AZF region in the Israeli population.

Original languageEnglish
Pages (from-to)469-478
Number of pages10
JournalHuman Biology
Issue number3
StatePublished - Jun 2004
Externally publishedYes


  • Azoospermia
  • Azoospermia factor (AZF)
  • Israel
  • Male infertility
  • Microdeletions
  • Oligozoospermia
  • Sequence-tagged site (STS)
  • Unique event polymorphism (UEP)
  • Y-chromosome haplotypes


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