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Study on the influence of the sY1192 gene locus in the AZFb/c region on sperm quality and pregnancy outcome
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作者 Gang-Xin Chen Yan Sun +3 位作者 Rui Yang Zhi-Qing Huang Hai-Yan Li Bei-Hong Zheng 《Asian Journal of Andrology》 2025年第2期231-238,共8页
Y chromosome microdeletions are an important cause of male infertility.At present,research on the Y chromosome is mainly focused on analyzing the loss of large segments of the azoospermia factor a/b/c(AZFa/b/c)gene,an... Y chromosome microdeletions are an important cause of male infertility.At present,research on the Y chromosome is mainly focused on analyzing the loss of large segments of the azoospermia factor a/b/c(AZFa/b/c)gene,and few studies have reported the impact of unit point deletion in the AZF band on fertility.This study analyzed the effect of sperm quality after sY1192 loss in 116 patients.The sY1192-independent deletion accounted for 41.4%(48/116).Eight patterns were found in the deletions associated with sY1192.The rate of sperm detection was similar in the semen of patients with the independent sY1192 deletion and the combined sY1192 deletions(52.1%vs 50.0%).The patients with only sY1192 gene loss had a higher probability of sperm detection than the patients whose sY1192 gene locus existed,but other gene loci were lost(52.1%vs 32.0%).The hormone levels were similar in patients with sY1192 deletion alone and in those with sY1192 deletion and other types of microdeletions in the presence of the sY1192 locus.After multiple intracytoplasmic sperm injection(ICSI)attempts,the pregnancy rate of spouses of men with sY1192-independent deletions was similar to that of other types of microdeletions,but the fertilization and cleavage rates were higher.We observed that eight deletion patterns were observed for sY1192 microdeletions of AZFb/c,dominated by the independent deletion of sY1192.After ICSI,the fertilization rate and cleavage rate of the sY1192-independent microdeletion were higher than those of other Y chromosome microdeletion types,but there was no significant difference in pregnancy outcomes. 展开更多
关键词 assisted reproductive technology AZFb/c pregnancy outcome sy1192 Y chromosome microdeletion
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探讨Y染色体AZF b区sY1192单一位点缺失对男性生精功能的影响
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作者 陈春媚 吴彤华 +3 位作者 郑凯欣 李玉叶 李红燕 宋明哲 《国际检验医学杂志》 CAS 2024年第S02期64-67,共4页
目的探讨Y染色体无精子因子(AZF)b区sY1192单一位点缺失在精液参数正常男性及严重少/无精子症男性中的发生率,以评估该单一位点缺失对男性生精功能的影响。方法纳入2021年1月至2022年5月本院收治的316例严重少/无精子症男性患者为观察组... 目的探讨Y染色体无精子因子(AZF)b区sY1192单一位点缺失在精液参数正常男性及严重少/无精子症男性中的发生率,以评估该单一位点缺失对男性生精功能的影响。方法纳入2021年1月至2022年5月本院收治的316例严重少/无精子症男性患者为观察组,2022年1月至7月316例精液常规参数正常的男性患者为对照组。采用多重PCR技术进行Y染色体微缺失检测,比较两组AZF b区sY1192缺失的检出率,以P<0.05为差异有统计学意义。结果观察组AZF b区sY1192缺失的检出率为12.97%(41/316),高于对照组的7.28%(23/316),两组间差异有统计学意义(χ^(2)=5.633,P=0.018)。观察组检出41例sY1192缺失中有12例合并了其他的缺失,对照组检出23例sY1192缺失中有1例合并了其他的缺失。观察组AZF b区sY1192单一位点缺失的检出率为9.18%(29/316),对照组为6.96%(22/316),两组间差异无统计学意义(χ^(2)=1.045,P=0.307)。结论AZF b区sY1192的单一位点缺失对生精功能影响不大,为临床医生临床诊断与后续治疗提供指导,也为遗传咨询提供依据。 展开更多
关键词 Y染色体 无精子因子 无精子症 严重少精子症 sy1192
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Y染色体AZFb区部分缺失致无精子症1例报告并文献复习
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作者 李圆圆 王祖龙 《中华男科学杂志》 CAS CSCD 北大核心 2023年第12期1050-1052,共3页
Y染色体长臂中调控精子生成的AZF基因区域异常可导致男性不育症^([1])的发生。且缺失位点和范围的不同,精子异常程度各不相同^([2])。缺失主要发生在AZFa区、b区、c区,如AZFa区缺失患者多表现为唯支持细胞综合征^([3])伴睾丸体积缩小,... Y染色体长臂中调控精子生成的AZF基因区域异常可导致男性不育症^([1])的发生。且缺失位点和范围的不同,精子异常程度各不相同^([2])。缺失主要发生在AZFa区、b区、c区,如AZFa区缺失患者多表现为唯支持细胞综合征^([3])伴睾丸体积缩小,无精子生成;AZFb区缺失的患者表现为精子生成受阻,多停留在精母细胞阶段;AZFc区缺失表现多样化,精子数量可表现正常,也可能造成严重少弱精子症或无精子症^([4-5])。 展开更多
关键词 AZFb区sY153 sy1192缺失 非梗阻性无精子症 男性不育症 案例报道 拓展位点
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