Y-Chromosome Haplotypes in Azoospermic Israeli Men

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...

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Bibliographic Details
Published in:Human biology 2004-06, Vol.76 (3), p.469-478
Main Authors: CARVALHO, C.M.B., ROCHA, J.L., SANTOS, F.R., KLEIMAN, S.E., PAZ, G., YAVETZ, H., PENA, S.D.J.
Format: Article
Language:English
Subjects:
Azoospermia
Biological anthropology
Chromosomes
Chromosomes, Human, Y - genetics
Deoxyribonucleic acid
DNA
Genes
Genetic aspects
Genetic markers
Genetics, Population
Hammers
Haplotypes
Human biology
Human genetics
Human Y chromosome
Humans
Infertility
Infertility, Male
Infertility, Male - genetics
Israel
Male
Male infertility
Medical screening
Men
Oligospermia - genetics
Polymerase chain reaction
Polymorphism
Sex chromosomes
Y chromosome
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Summary: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* (xRla, Rlb8), K* (xP), and E. In six patients with AZFc deficiencies of comparable size, three belonged to haplogroup J, two belonged to haplogroup P* (xRla, Rlb8), and one belonged to haplogroup Rla. 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.
ISSN:0018-7143
1534-6617
1534-6617
DOI:10.1353/hub.2004.0042