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Y染色体微缺失与男性不育的相关性分析 被引量:7

Correlation between Y chromosome microdeletion and male infertility
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摘要 目的探讨Y染色体微缺失与男性不育(MI)的关系。方法选取2016年1月至2019年1月温岭市妇幼保健院诊治的758例温岭地区MI患者作为研究对象。将这758例设为观察组,另选取同期体检的83例正常生育男性设为对照组。分析MI患者中无精子因子(AZF)微缺失发生率及对表型的影响,AZF微缺失与生殖相关激素之间关系,AZFc微缺失情况,并比较不同AZFc区域无精子症缺失基因家族(DAZ)基因拷贝类型与男性不育情况。结果758例MI患者AZF微缺失发生率为5.01%,AZF微缺失中AZFc占比为78.95%。缺失组促黄体生成素(LH)、促卵泡激素(FSH)水平高于无缺失组,差异具有统计学意义(P<0.05),睾酮(T)水平低于无缺失组,差异具有统计学意义(P<0.05)。AZFc微缺失患者中,无精子症占43.33%,sY254位点缺失率为27.78%。不同组间DAZ1/2基因拷贝缺失率比较,差异无统计学意义(P>0.05)。无精子症组、严重少精子症组、少精症组DAZ3/4基因拷贝缺失率高于对照组,差异具有统计学意义(P<0.05)。结论MI患者AZF微缺失发生率为5.01%,AZF微缺失可引起FSH、LH水平升高,T水平降低。AZFc区的微缺失中DAZ3/4拷贝缺失与生精障碍密切相关。 Objective To explore the relationship between Y chromosome microdeletion and male infertility(MI).Methods 758 MI patients admitted to the Wenling Women and Children′s Health Hospital from January 2016 to January 2019 were enrolled as observation group.83 normal infertility men who underwent physical examination in the same period were enrolled as normal group.The incidence of azoospermia factor(AZF)microdeletion in MI patients and the effects on phenotype,relationship between AZF microdeletion and reproductive related hormones and AZFc microdeletion were analyzed.The deleted-in-azoospermia(DAZ)gene copy types and male infertility in different AZFc regions were compared.Results The incidence of AZF microdeletion in 758 MI patients was 5.01%.In AZF microdeletion,proportion of AZFc was 78.95%.The levels of luteinizing hormone(LH)and follicle stimulating hormone(FSH)in AZF microdeletion group were higher than those in AZF non-microdeletion group(P<0.05),while testosterone(T)level was lower than that in AZF non-microdeletion group(P<0.05).Among patients with AZFc microdeletion,azoospermia patients accounted for 43.33%.The rate of deletion at sY254 site was 27.78%.There was no significant difference in copy deletion of DAZ1/2 gene among different groups(P>0.05).The number of DAZ3/4 gene copy deletion in azoospermia group,severe oligozoospermia group and oligospermia group was higher than that in the normal group,and the difference was statistically significant(P<0.05).Conclusions The incidence of AZF microdeletion in MI patients is 5.01%,and AZF microdeletion can cause the increase of FSH and LH levels and the decrease of T levels.DAZ3/4 copy deletion in microdeletion of AZFc region is closely related to spermatogenic disorder.
作者 俞艇 孙亨秋 陶良艇 叶仁 黄邢邢 YU Ting;SUN Hengqiu;TAO Liangting;YE Ren;HUANG Xingxing(Department of Surgery,Wending Women and Children's Healh Hospital,Wenling317500,Zhejiang,China)
出处 《中国性科学》 2020年第12期7-10,共4页 Chinese Journal of Human Sexuality
基金 温岭市妇幼保健院科研项目(2018C310026)。
关键词 Y染色体微缺失 男性不育 关系 Y chromosome microdeletion Male infertility Relationship
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