1号染色体平衡易位断裂位点对男性精液常规参数的影响  

Breakpoints of balanced chromosome 1 translocation is related to routine semen parameters

作　　者：王会[1] 傅海龙[1] 刘敏[1] 陈虹[1] 高选[1] WANG Hui;FU Hai-long;LIU Min;CHEN Hong;GAO Xuan(Center of Reproductive Medicine/National Research Center for Assisted Reproductive Technology and Reproductive Genetics/Key Laboratory of the Ministry of Education for Reproductive Endocrinology,Shandong University,Jinan,Shandong 250001,China)

机构地区：[1]山东大学生殖医学研究中心/国家辅助生殖与优生工程技术研究中心/生殖内分泌教育部重点实验室(山东大学),山东济南250001

出　　处：《中华男科学杂志》2021年第12期1087-1091,共5页National Journal of Andrology

摘　　要：目的:探讨1号染色体平衡易位断裂点的位置对男性精液常规参数的影响。方法:收集2017年1月至2020年12月因男性生殖异常到山东大学附属生殖医院男科门诊就诊患者44239例,经外周血染色体G显带核型分析,确诊为1号染色体平衡易位携带者57例,均行精液常规检查。结果:57例1号染色体平衡易位携带者中精液正常者占24.56%,精液异常者占75.44%。精液正常者中1号染色体平衡易位断裂点最常见位点为p36.2、p21、q31、q32,精液异常者中无精子症患者11例,其断裂位点分布在q21、p13、p10、p21、p11、q24、q32,少精子症或弱精子症等严重精液异常者5例,其断裂位点分布在q21、p13、p32、p22、p12。无精子症和严重精液异常者中最常见位点为q21、p13、p10。结论:1号染色体平衡易位与男性精液常规参数有着密切的联系,并且男性精液常规参数异常的严重程度与1号染色体的断裂位点密切相关。Objective:To explore the influence of the breakpoints of balanced chromosome 1 translocation on routine semen parameters.Methods:This study included 44,239 patients with male reproductive abnormalities from the outpatient department of Shandong University Hospital of Reproduction between January 2017 and December 2020.Through chromosome G banding karyotype analysis of peripheral blood,57 of the patients were diagnosed as balanced chromosome 1 translocation carriers and underwent routine semen examination.Results:Normal semen were found in 24.56%and abnormal semen in 75.44%of the 57 balanced chromosome 1 translocation carriers.The most common breakpoints were p36.2,p21,q31 and q32 for normal semen,q21,p13,p10,p21,p11,q24 and q32 for abnormal semen in the 11 cases of azoospermia,q21,p13,p32,p22 and p12 in the 5 patients with severe semen abnormalities such as oligospermia and asthenospermia,and q21,p13 and p10 in azoospermia and severe semen abnormalities.Conclusion:Balanced chromosome 1 translocation is closely related to routine semen parameters,and so is the breakpoint of chromosome 1 to the severity of semen abnormalities.

关 键 词：1号染色体 平衡易位 断裂位点 精液参数 

分 类 号：R394.2[医药卫生—医学遗传学] R321.1[医药卫生—基础医学]