The Open Andrology Journal

2010, 2 : 11-18
Published online 2010 June 18. DOI: 10.2174/1876827X01002010011
Publisher ID: TOANDROJ-2-11

Common Tag STSs in the AZF Region Associated with Azoospermia and Severe Oligospermia in Infertile Egyptian Men

Nasser A. Elhawary , Neveen S. Seif-Eldin , Marwa Zaki , Heba Diab , Salwa Teama and Saleh A. Saleh
Department of Medical Genetics, Faculty of Medicine, P.O. 7607, Umm Al-Qura University, Makkah, KSA.

ABSTRACT

Screening of Yq has become one of the most frequently performed postnatal molecular genetic tests in Egypt. Our purpose was to determine the tag sequence-tagged sites (STSs) in the AZF -region of Yq associated with azoospermia and severe oligospermia in infertile Egyptian men. We analyzed blood samples from 49 infertile men (28 with azoospermia and 21 with severe oligospermia) using multiplex PCR for six common AZFa, AZFb, and AZFc STS markers,, as recommended by the European Academy of Andrology. Twenty-four (37%) microdeletions with five separate deletions were identified. We found 66.7% of the deletions in the AZFb locus, 20.8% in the AZFa locus, and 12.5% in the AZFc locus. Some common haplotypes (7 of 10) were identified in our sample population. Haplotypes H3 (corresponding to sY127) and H4 (corresponding to sY134) were the most common. We suggest that screening with a minimum of three STSs-sY86, sY127, and sY134-would provide the highest level of clinical sensitivity in genetic testing among infertile Egyptian men. Moreover, separate microdeletions were localized in infertile Y-chromosome patients.

Keywords:

Hypothalamic-pituitary-gonadal function, aging, diabetes mellitus, obesity.