Aim： To assess for the first time the occurrence of Y chromosomal microdeletions and partial deletions of the Azoospermia Factor c （AZFc） region in Sri Lankan men and to correlate them with clinical parameters. Met...Aim： To assess for the first time the occurrence of Y chromosomal microdeletions and partial deletions of the Azoospermia Factor c （AZFc） region in Sri Lankan men and to correlate them with clinical parameters. Methods： In a retrospective study, we analyzed 96 infertile men （78 with non-obstructive azoospermia） and 87 controls with normal spermatogenesis. AZFa, AZFb, AZFc and partial deletions within the AZFc region were analyzed by multiplex polymerase chain reaction （PCR） according to established protocols. Results： No AZFa, AZFb or AZFc deletions were found in the control group. Seven patients in the group of infertile men were found to have deletions as following： one AZFa, two AZFc, two AZFbc and two AZFabc. The relative distribution of these patterns was significantly different compared with that found in the German population. Extension analysis confirmed that the deletions occurred according to the current pathogenic model, gr/gr deletions were found to be equally present both in the patients （n = 4） and in the control group （n = 4）. One b2/b3 deletion was found in the patient group. Conclusion： These results suggest that the frequency and pattern of microdeletions of the Y chromosome in Sri Lankan men are similar to those found in other populations and confirm that gr/gr deletions are not sufficient to cause spermatogenetic failure. （Asian J Androl 2006 Jan; 8： 39-44）展开更多
Objective:There are many reports on associations between spermatogenesis and partial azoospermia factor c(AZFc) deletions as well as duplications;however,results are conflicting,possibly due to differences in methodol...Objective:There are many reports on associations between spermatogenesis and partial azoospermia factor c(AZFc) deletions as well as duplications;however,results are conflicting,possibly due to differences in methodology and ethnic background.The purpose of this study is to investigate the association of AZFc polymorphisms and male infertility in the Yi ethnic population,residents within Yunnan Province,ChinaMethods:A total of 224 infertile patients and 153 fertile subjects were selected in the Yi ethnic population.The study was performed by sequence-tagged site plus/minus(STS+/) analysis followed by gene dosage and gene copy definition analysis.Y haplotypes of 215 cases and 115 controls were defined by 12 binary markers using single nucleotide polymorphism on Y chromosome(Y-SNP) multiplex assays based on single base primer extension technology.Results:The distribution of Y haplotypes was not significantly different between the case and control groups.The frequencies of both gr/gr(7.6% vs.8.5%) and b2/b3(6.3% vs.8.5%) deletions do not show significant differences.Similarly,single nucleotide variant(SNV) analysis shows no significant difference of gene copy definition between the cases and controls.However,the frequency of partial duplications in the infertile group(4.0%) is significantly higher than that in the control group(0.7%).Further,we found a case with sY1206 deletion which had two CDY1 copies but removed half of DAZ genes.Conclusions:Our results show that male infertility is associated with partial AZFc duplications,but neither gr/gr nor b2/b3 deletions,suggesting that partial AZFc duplications rather than deletions are risk factors for male infertility in Chinese-Yi population.展开更多
文摘Aim： To assess for the first time the occurrence of Y chromosomal microdeletions and partial deletions of the Azoospermia Factor c （AZFc） region in Sri Lankan men and to correlate them with clinical parameters. Methods： In a retrospective study, we analyzed 96 infertile men （78 with non-obstructive azoospermia） and 87 controls with normal spermatogenesis. AZFa, AZFb, AZFc and partial deletions within the AZFc region were analyzed by multiplex polymerase chain reaction （PCR） according to established protocols. Results： No AZFa, AZFb or AZFc deletions were found in the control group. Seven patients in the group of infertile men were found to have deletions as following： one AZFa, two AZFc, two AZFbc and two AZFabc. The relative distribution of these patterns was significantly different compared with that found in the German population. Extension analysis confirmed that the deletions occurred according to the current pathogenic model, gr/gr deletions were found to be equally present both in the patients （n = 4） and in the control group （n = 4）. One b2/b3 deletion was found in the patient group. Conclusion： These results suggest that the frequency and pattern of microdeletions of the Y chromosome in Sri Lankan men are similar to those found in other populations and confirm that gr/gr deletions are not sufficient to cause spermatogenetic failure. （Asian J Androl 2006 Jan; 8： 39-44）
基金Project(No.GREKF09-08)supported by the State Key Laboratory of Genetic Resources and Evolution,Kunming Institute of Zoology,Chinese Academy of Sciences,China
文摘Objective:There are many reports on associations between spermatogenesis and partial azoospermia factor c(AZFc) deletions as well as duplications;however,results are conflicting,possibly due to differences in methodology and ethnic background.The purpose of this study is to investigate the association of AZFc polymorphisms and male infertility in the Yi ethnic population,residents within Yunnan Province,ChinaMethods:A total of 224 infertile patients and 153 fertile subjects were selected in the Yi ethnic population.The study was performed by sequence-tagged site plus/minus(STS+/) analysis followed by gene dosage and gene copy definition analysis.Y haplotypes of 215 cases and 115 controls were defined by 12 binary markers using single nucleotide polymorphism on Y chromosome(Y-SNP) multiplex assays based on single base primer extension technology.Results:The distribution of Y haplotypes was not significantly different between the case and control groups.The frequencies of both gr/gr(7.6% vs.8.5%) and b2/b3(6.3% vs.8.5%) deletions do not show significant differences.Similarly,single nucleotide variant(SNV) analysis shows no significant difference of gene copy definition between the cases and controls.However,the frequency of partial duplications in the infertile group(4.0%) is significantly higher than that in the control group(0.7%).Further,we found a case with sY1206 deletion which had two CDY1 copies but removed half of DAZ genes.Conclusions:Our results show that male infertility is associated with partial AZFc duplications,but neither gr/gr nor b2/b3 deletions,suggesting that partial AZFc duplications rather than deletions are risk factors for male infertility in Chinese-Yi population.
