Aim： 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 3...Aim： 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. Methods： 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. Results： Five （1.4%） of the normozoospermic men were found to have deletion of grlgr-DAZ1/DAZ2. None of the men were found to have b2/b4--entire DAZ deletion. Conclusion： The presence of grlgr-DAZ1/DAZ2 deletion in five men with normozoospermia suggests that this deletion per se may not be sufficient for spermatogenic impairment in Chinese men. （Asian J Androl 2006 Mar; 8： 183-187）展开更多
Aim： To determine the deletion junctions of infertile men in Taiwan with azoospermia factor region c （AZFc） deletions and to evaluate the genotype/phenotype correlation. Methods： Genomic DNAs from 460 infertile me...Aim： To determine the deletion junctions of infertile men in Taiwan with azoospermia factor region c （AZFc） deletions and to evaluate the genotype/phenotype correlation. Methods： Genomic DNAs from 460 infertile men were examined. Bacterial artificial chromosome clones were used to verify the accuracy of polymerase chain reaction. Deletion junctions of the AZFc region were determined by analysis of sequence-tagged sites and gene-specific markers. Results： Complete AZFc deletions, including BPY2, CDY1 and DAZ genes, were identified in 24 men. The proximal breakpoints were clustered between sY1197 and sY1192, and the distal breakpoints were clustered between sY1054 and sYl125 in all but one of the 24 men. The testicular phenotypes of men with complete AZFc deletion varied from oligozoospermia, to hypospematogenesis, to maturation arrest. Conclusion： We identified a group of infertile men with uniform deletion junctions of AZFc in the Taiwan population. Despite this homogeneous genetic defect in the AZFc region, no clear genotypedphenotype correlation could be demonstrated. （Asian JAndrol 2006 Mar; 8： 205-211）展开更多
To investigate the association of single nucleotide polymorphism 260 and 386 （SNP260 and SNP386） gene with male infertility, an electronic search was performed to identify case-control studies evaluating the relatio...To investigate the association of single nucleotide polymorphism 260 and 386 （SNP260 and SNP386） gene with male infertility, an electronic search was performed to identify case-control studies evaluating the relationship of SNP260 or SNP386 of deleted in azoospermia-like （DAZL） and male infertility. Review Manager 5 was used to process the meta-analysis and other statistical analysis. A total of 139 records were retrieved, of which 13 case-control studies with total 2715 patients and 1835 normozoospermic men were included. SNP260 was found not to play a functional role in male oligo/azoospermia either for Caucasians or for Asians. But for SNP386, models of allele （A/G）, dominant （AA/AG ＋ GG）, co-dominant （AA/AG） and super-dominant （AA ＋ GG/AG） had a strong correlation to spermatogenic failure with related odds ratio being 0.15 （95% confidence interval [95% CI] 0.07 to 0.34, P〈 0.00001）, 0.16 （95% CI 0.07 to 0.35, P〈 0.00001）, 0.15 （95% CI 0.06 to 0.33, P〈 0.00001） and 0.15 （95% CI 0.06 to 0.33, P 〈 0.00001）, respectively. Moreover, this correlation was only found in the Chinese Han population （decreasing around 85% risk of oligo/azoospermia infertility） and not found in India, Japan, and Caucasian countries. Our analysis demonstrated that SNP260 of DAZL did not contribute to oligo/azoospermia while SNP386 was correlated to male infertility. However, this correlation was only found in China with a country-specific and ethnicity-specific manner.展开更多
Idiopathic azoospermia or oligozoospermia affects approximately 2% -4% of allmarried males. Recently studies have confirmed that the deletion of DAZ in AZFc region of Ychromosome may be one of the important genetic ae...Idiopathic azoospermia or oligozoospermia affects approximately 2% -4% of allmarried males. Recently studies have confirmed that the deletion of DAZ in AZFc region of Ychromosome may be one of the important genetic aetiologies of Caucasian male infertility. Todetermine the relationship between DAZ gene deletion and idiopathic male infertility in Chinesepopulation, we analysed the DAZ gene copy number of AZFc region in patients with idiopathicazoospermia or oligozoospermia, as well as fertile Chinese men.展开更多
基金the National High Technology Research and Development Program （863 Program, China, grant numbers 2002BA711A08 and 2004AA216090） National Natural Science Foundation of China （grant number 30371491）+1 种基金 Foundation of Population and Family Planning Committee, Sichuan Province, China （grant number 200149） the China Medical Board Foundation.
文摘Aim： 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. Methods： 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. Results： Five （1.4%） of the normozoospermic men were found to have deletion of grlgr-DAZ1/DAZ2. None of the men were found to have b2/b4--entire DAZ deletion. Conclusion： The presence of grlgr-DAZ1/DAZ2 deletion in five men with normozoospermia suggests that this deletion per se may not be sufficient for spermatogenic impairment in Chinese men. （Asian J Androl 2006 Mar; 8： 183-187）
文摘Aim： To determine the deletion junctions of infertile men in Taiwan with azoospermia factor region c （AZFc） deletions and to evaluate the genotype/phenotype correlation. Methods： Genomic DNAs from 460 infertile men were examined. Bacterial artificial chromosome clones were used to verify the accuracy of polymerase chain reaction. Deletion junctions of the AZFc region were determined by analysis of sequence-tagged sites and gene-specific markers. Results： Complete AZFc deletions, including BPY2, CDY1 and DAZ genes, were identified in 24 men. The proximal breakpoints were clustered between sY1197 and sY1192, and the distal breakpoints were clustered between sY1054 and sYl125 in all but one of the 24 men. The testicular phenotypes of men with complete AZFc deletion varied from oligozoospermia, to hypospematogenesis, to maturation arrest. Conclusion： We identified a group of infertile men with uniform deletion junctions of AZFc in the Taiwan population. Despite this homogeneous genetic defect in the AZFc region, no clear genotypedphenotype correlation could be demonstrated. （Asian JAndrol 2006 Mar; 8： 205-211）
基金ACKNOWLEDGMENTS XHZ is supported by the National Natural Science Foundation of China （No. 81270843 and No. 81160086）.Supplementary information is linked to the online version of the paper on the Asian Journal of Andrology website.
文摘To investigate the association of single nucleotide polymorphism 260 and 386 （SNP260 and SNP386） gene with male infertility, an electronic search was performed to identify case-control studies evaluating the relationship of SNP260 or SNP386 of deleted in azoospermia-like （DAZL） and male infertility. Review Manager 5 was used to process the meta-analysis and other statistical analysis. A total of 139 records were retrieved, of which 13 case-control studies with total 2715 patients and 1835 normozoospermic men were included. SNP260 was found not to play a functional role in male oligo/azoospermia either for Caucasians or for Asians. But for SNP386, models of allele （A/G）, dominant （AA/AG ＋ GG）, co-dominant （AA/AG） and super-dominant （AA ＋ GG/AG） had a strong correlation to spermatogenic failure with related odds ratio being 0.15 （95% confidence interval [95% CI] 0.07 to 0.34, P〈 0.00001）, 0.16 （95% CI 0.07 to 0.35, P〈 0.00001）, 0.15 （95% CI 0.06 to 0.33, P〈 0.00001） and 0.15 （95% CI 0.06 to 0.33, P 〈 0.00001）, respectively. Moreover, this correlation was only found in the Chinese Han population （decreasing around 85% risk of oligo/azoospermia infertility） and not found in India, Japan, and Caucasian countries. Our analysis demonstrated that SNP260 of DAZL did not contribute to oligo/azoospermia while SNP386 was correlated to male infertility. However, this correlation was only found in China with a country-specific and ethnicity-specific manner.
文摘Idiopathic azoospermia or oligozoospermia affects approximately 2% -4% of allmarried males. Recently studies have confirmed that the deletion of DAZ in AZFc region of Ychromosome may be one of the important genetic aetiologies of Caucasian male infertility. Todetermine the relationship between DAZ gene deletion and idiopathic male infertility in Chinesepopulation, we analysed the DAZ gene copy number of AZFc region in patients with idiopathicazoospermia or oligozoospermia, as well as fertile Chinese men.
