Loss of the AZFc region due to a humanY-chromosome microdeletion in infertilemale patients

L.K. Pandey, S. Pandey, J. Gupta and A.K. Saxena
Published June 29, 2010
Genet. Mol. Res. 9 (2): 1267-1273 (2010)
DOI 10.4238/vol9-2gmr836

About the authors
L.K. Pandey, S. Pandey, J. Gupta and A.K. Saxena

Corresponding author
A.K. Saxena
E-mail: draksaxena1@rediffmail.com


Infertility is a major reproductive health threat; the frequency of male infertility due to Y-chromosome microdeletions is 13-18% in the human population; these microdeletions involve recurrent loss of three non-overlapping regions designated as AZFa, AZFb and AZFc, associated with spermatogenic failure. Several contradictory reports have been published regarding deletion frequency based on sequence-tagged site markers and genotype-phenotype correlation. We examined the prevalence of Yq- deletion in 64 clinically diagnosed infertile male patients. We found a 3% frequency of microdeletion of the AZFc region; hormone profiles (FSH, LH and testosterone) showed significantly (P < 0.001) elevated levels compared to controls. No mutations were observed in the AZFaand AZFb regions, perhaps due to the selective use of sequencetagged site markers.

Key words: Male infertility; Y-chromosome microdeletion; AZF regions; STS markers

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