Loss of the AZFc region due to a human Y-chromosome microdeletion in infertile male patients.
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 AZFa and AZFb regions, perhaps due to the selective use of sequence-tagged site markers.
Pandey
L K
LK
Human Cytogenetic and Molecular Genetic Laboratory, Faculty of Medicine, Centre of Experimental Medicine and Surgery, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India.
Pandey
S
S
Gupta
J
J
Saxena
A K
AK
D000328:Adult; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D056426:Genetic Loci; D005819:Genetic Markers; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction; D029589:Seminal Plasma Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA; D016324:Sequence Tagged Sites
D017931:DNA Primers; D005819:Genetic Markers; D029589:Seminal Plasma Proteins