Y chromosome microdeletions in idiopathic infertile men from west Azarbaijan

Although assisted reproduction techniques are used extensively in Iran, screening for Y chromosome microdeletions before intracytoplasmic sperm injection is often undervalued. Our aim was to investigate Y chromosome microdeletions in men with idiopathic azoospermia or severe oligospermia. In 99 selected patients with azoospermia or severe oligospermia and elevated levels of follicle-stimulating hormone and luteinizing hormone in combination with low serum testosterone levels, 20 pairs of sequence-tagged site-based primer sets specific for the Y microdeletion loci were analyzed. Primers were chosen to cover azoospermia factor [AZF] regions as well as deleted in azoospermia [DAZ] and the sex-determining region on Y chromosome [SRY] genes. Also, 100 healthy men served as a control group. Twenty-four patients [24.2%] had microdeletions in AZF genes, but no microdeletions were found in men in the control group. In 15 patients [62.5%], 1 deletion was found. Six patients [25%] had 2, and 3 [12.5%] had 3 deletions. The deletions mainly comprised the AZFc region [in 21 of 24 patients; 87.5%], which corresponds to the DAZ gene. Deletions in AZFb were found in 7 patients [29.2%], and 4 [16.7%] had deletions in the proximal part of AZF regions near SRY gene. No microdeletions were seen in the AZFa or SRY gene. Our results emphasize that Y chromosome microdeletion analysis should be carried out in all patients with idiopathic azoospermia or severe oligospermia who are candidates for intracytoplasmic sperm injection

Cytokine gene polymorphisms in iranian patients with beta-thalassemia major

beta-thalassemia as a hereditary disease is defined as defective synthesis of beta -globin chains, resulting in erythropoiesis abnormalities and severe anemia. Different studies have shown that cytokines and cytokine gene polymorphisms play a major role in the pathogenesis of beta -thalassemia. Single nucleotide polymorphisms [SNPs] within the promoter region or other regulatory sequences of cytokine genes lead to overall production of cytokines. To analyze the genetic profile of Thl and Th2 cytokines in Iranian patients with beta -thalassemia major. Allelic and genotype frequencies of cytokine genes were determined in 30 thalassemia patients and 40 healthy subjects using PCR-SSP assay. Allele and genotype frequencies were calculated and compared with those of normal controls. The results of our study show a significant decrease in A allele at position UTR 5644 IFN-y, G alleles at position -238 TNF-oc and 166 IL-2, and C allele at position -590 IL-4. TGF- beta haplotype TG/TG increased whereas TGF- beta haplotype CG/CG and IL-10 haplotype GCC/ACC decreased significantly in all patients. Data of this investigation suggest that variations among cytokine gene polymorphisms may contribute to the disease susceptibility. A finding which needs to be fairly clarified in other ethnic groups