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
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
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
Studies have explored the assisted reproductive technology(ART)outcomes of Y-chromosome azoospermia factor c(AZFc)microdeletions,but the effect of sperm source on intracytoplasmic sperm injection(ICSI)remains unknown....Studies have explored the assisted reproductive technology(ART)outcomes of Y-chromosome azoospermia factor c(AZFc)microdeletions,but the effect of sperm source on intracytoplasmic sperm injection(ICSI)remains unknown.To determine the ART results of ICSI using testicular sperm and ejaculated sperm from males with AZFc microdeletions,we searched Embase,Web of Science,and PubMed to conduct a systematic review and meta-analysis.The first meta-analysis results for 106 cycles in five studies showed no significant differences in the live birth rate between the testicular sperm group and the ejaculated sperm group(risk ratio:0.97,95%confidence interval[CI]:0.73-1.28,P=0.82).The second meta-analysis of 106 cycles in five studies showed no difference in the abortion rate between the testicular sperm group and ejaculated sperm group(risk ratio:1.06,95%Cl:0.54-2.06,P=0.87).The third meta-analysis of 386 cycles in seven studies showed no significant difference in clinical pregnancy rates between the testicular sperm group and the ejaculated sperm group(risk ratio:1.24,95%Cl:0.66-2.34,P=0.50).Inevitable heterogeneity weakened our results.However,our results indicated that testicular sperm and ejaculated sperm yield similar ART outcomes,representing a meaningful result for clinical treatment.More properly designed studies are needed to further confirm our conclusions.展开更多
目的探讨无精子症无精子因子C区域(Azoospermia factor C region,AZFc)缺失患者的临床特点及其与性激素的相关性。方法回顾性分析63例无精子症并AZFc缺失患者的临床资料,包括年龄、身高、体重、体重指数(BMI)、睾丸体积和性激素。结果...目的探讨无精子症无精子因子C区域(Azoospermia factor C region,AZFc)缺失患者的临床特点及其与性激素的相关性。方法回顾性分析63例无精子症并AZFc缺失患者的临床资料,包括年龄、身高、体重、体重指数(BMI)、睾丸体积和性激素。结果无精子症AZFc缺失组患者身高、体重、睾丸体积与精液正常组差异有统计学意义(P<0.05);2组FSH、LH、睾酮、催乳素水平差异也有统计学意义(P<0.05)。BMI与雌二醇呈正相关(r=0.327,P=0.009),与FSH呈负相关(r=-0.251,P=0.04);年龄与睾酮呈负相关(r=-0.256,P=0.04);睾丸体积与FSH呈负相关(r=-0.289,P=0.02);身高与睾酮、雌二醇、FSH、LH无相关性(P>0.05)。结论无精子症AZFc缺失患者更容易出现体重超标现象,容易更早期出现雄激素水平的下降,生活方式的调整和补充睾酮可能对该类患者的长期生活质量有益。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）
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.
基金the Project of Medical Science and Technology Research Foundation of Guangdong Province(No.A2019336)Guangzhou Science and Technology Plan Project(No.201707010394).
文摘Studies have explored the assisted reproductive technology(ART)outcomes of Y-chromosome azoospermia factor c(AZFc)microdeletions,but the effect of sperm source on intracytoplasmic sperm injection(ICSI)remains unknown.To determine the ART results of ICSI using testicular sperm and ejaculated sperm from males with AZFc microdeletions,we searched Embase,Web of Science,and PubMed to conduct a systematic review and meta-analysis.The first meta-analysis results for 106 cycles in five studies showed no significant differences in the live birth rate between the testicular sperm group and the ejaculated sperm group(risk ratio:0.97,95%confidence interval[CI]:0.73-1.28,P=0.82).The second meta-analysis of 106 cycles in five studies showed no difference in the abortion rate between the testicular sperm group and ejaculated sperm group(risk ratio:1.06,95%Cl:0.54-2.06,P=0.87).The third meta-analysis of 386 cycles in seven studies showed no significant difference in clinical pregnancy rates between the testicular sperm group and the ejaculated sperm group(risk ratio:1.24,95%Cl:0.66-2.34,P=0.50).Inevitable heterogeneity weakened our results.However,our results indicated that testicular sperm and ejaculated sperm yield similar ART outcomes,representing a meaningful result for clinical treatment.More properly designed studies are needed to further confirm our conclusions.
文摘目的探讨无精子症无精子因子C区域(Azoospermia factor C region,AZFc)缺失患者的临床特点及其与性激素的相关性。方法回顾性分析63例无精子症并AZFc缺失患者的临床资料,包括年龄、身高、体重、体重指数(BMI)、睾丸体积和性激素。结果无精子症AZFc缺失组患者身高、体重、睾丸体积与精液正常组差异有统计学意义(P<0.05);2组FSH、LH、睾酮、催乳素水平差异也有统计学意义(P<0.05)。BMI与雌二醇呈正相关(r=0.327,P=0.009),与FSH呈负相关(r=-0.251,P=0.04);年龄与睾酮呈负相关(r=-0.256,P=0.04);睾丸体积与FSH呈负相关(r=-0.289,P=0.02);身高与睾酮、雌二醇、FSH、LH无相关性(P>0.05)。结论无精子症AZFc缺失患者更容易出现体重超标现象,容易更早期出现雄激素水平的下降,生活方式的调整和补充睾酮可能对该类患者的长期生活质量有益。
