Association of single nucleotide polymorphisms of PATZ1 gene with azoospermia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the relationship between the polymorphisms of single nucleotide polymorphisms(SNPs) in rs2240424, rs2057951, rs2240427 and rs714909 loci in the PATZ1 gene and azoospermia.</p><p><b>METHODS</b>The allele and genotype frequencies of the four SNPs were investigated in 180 patients with azoospermia and 190 normal men as controls by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis. The allele and genotype frequencies of the four SNPs were investigated in 180 patients with azoospermia and 190 normal men as controls by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis.</p><p><b>RESULTS</b>The frequencies of allele C (35.0% vs. 27.6%, P=0.031) and individuals with allele C (TC+CC) (57.8% vs. 46.3%, P=0.027) at the rs2057951 locus in azoospermic patients were significantly higher than that in normal men. There was a significant difference in distribution of haplotypes of the four SNPs between the two groups (P=0.01). Hapoltypes ACAC (11.1% vs. 6.6%, P=0.029) and ACGC (11.2% vs. 5.2%, P=0.003) increased significantly in azoospermic patients compared with controls.</p><p><b>CONCLUSION</b>The allele C of rs2057951 locus and haplotypes ACAC and ACGC of the four SNPs in PTAZ1 gene increased the susceptibility to azoospermia, suggesting that PATZ1gene may be associated with azoospermia.</p>

DAZ1/DAZ2 cluster deletion mediated by gr/gr recombination per se may not be sufficient for spermatogenesis impairment: a study of Chinese normozoospermic men / 亚洲男科学杂志(英文版)

<p><b>AIM</b>To explore the possible effect of the deleted in azoospermia (DAZ) copy cluster deletion on spermatogenesis in the Chinese population, the deletion of the azoospermia factor c (AZFc) region was analyzed in 346 normozoospermic men.</p><p><b>METHODS</b>Three DAZ single nucleotide variant loci and seven AZFc-specific sequence-tagged sites were examined with polymerase chain reaction (PCR)-restriction fragment length polymorphism and routine PCR.</p><p><b>RESULTS</b>Five (1.4%) of the normozoospermic men were found to have deletion of gr/gr-DAZ1/DAZ2. None of the men were found to have b2/b4-entire DAZ deletion.</p><p><b>CONCLUSION</b>The presence of gr/gr-DAZ1/DAZ2 deletion in five men with normozoospermia suggests that this deletion per se may not be sufficient for spermatogenic impairment in Chinese men.</p>

Possible association between 278C/A single nucleotide polymorphism of FKBP6 and idiopathic azoospermia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate 2 polymorphism sites in exon 3 and intron 2 of FKBP6 in Chinese population, while screening the gene mutations and polymorphisms in exons 3, 4 of FKBP6, and the association of these polymorphisms with azoospermia.</p><p><b>METHODS</b>Possible variations of exons 3, 4 and genotypes and frequencies of 2 polymorphic loci were examined by denaturing high-performance liquid chromatography(DHPLC) and PCR-restriction fragment length polymorphism(PCR-RFLP) technique in 177 azoospermia patients and 231 control individuals.</p><p><b>RESULTS</b>The observed allele frequencies conformed well to Hardy-Weinberg equilibrium. The frequency of 278A allele was significantly higher in controls than that in patients (P<0.05). C/T(s7797242) polymorphism was not found in either group and variations in exons 3, 4 were not detected.</p><p><b>CONCLUSION</b>278A polymorphism of FKBP6 gene was associated with idiopathic azoospermia, while C/T, 370G/A, 430G/C, 467T/C, 468G/A polymorphisms might be very rare in Chinese population.</p>