男性染色体平衡易位携带者染色体断裂点与生精缺陷的关系初步探讨  

A preliminary study on the relationship between chromosome breakpoint and spermatogenesis dysfunction in the male carriers of chromosomal balanced translocation

作　　者：张剑[1] 陈小露 王文博 陈佳燕 葛运生 Zhang Jian;Chen Xiaolu;Wang Wenbo;Chen Jiayan;Ge Yunsheng(Department of Central Laboratory,Women and Children's Hospital,School of Medicine,Xiamen University(Xiamen Maternal and Child Healthcare Hospital),Xiamen 361003,China)

机构地区：[1]厦门大学附属妇女儿童医院(厦门市妇幼保健院)中心实验室,厦门361003

出　　处：《中华生殖与避孕杂志》2023年第7期723-728,共6页Chinese Journal of Reproduction and Contraception

基　　金：厦门市医疗卫生科技项目(3502Z20194070)。

摘　　要：目的分析男性染色体平衡易位携带者染色体及断裂点分布情况,并探讨不同断裂点对精子生成的影响。方法采用回顾性研究收集2015年1月至2021年12月期间在厦门大学附属妇女儿童医院中心实验室行外周血G-显带核型分析并确诊为染色体易位的87例男性患者的临床资料和精液常规及精子形态学检测数据,进一步结合文献综合分析。结果87例男性易位携带者中37例(42.53%)表现为精子生成缺陷。各条染色体受累数次不同,对精子生成的影响也不相同,1号染色体受累多达16次,而Y和18号仅受累1次,4例涉及性染色体的易位和4例复杂染色体重排均表现出生精功能缺陷;染色体易位共累计出现122个断裂点,其中有14个区带受累3次及以上,且不同断裂点对精子质量的影响也不同,易位发生在Xq28区带,临床上均表现为无精子症,发生在19q13区带4例中有3例有生精缺陷。结论染色体平衡易位男性携带者中,精子生成情况差异较大,临床表现从精液正常到少、弱精子症甚至无精子症,其中1号染色体受累次数最多,且涉及Xq28区带的易位对精子生成的影响最为严重,均表现为无精子症。Objective To determine the distribution of chromosomes and breakpoint regions in the male carriers of chromosomal balanced translocation,and to explore the influence of breakpoint regions on spermatogenesis.Methods A total of 87 male patients who underwent G-banding karyotype analysis and were diagnosed as translocation carriers in the Department of Central Laboratory of Women and Children's Hospital,School of Medicine,Xiamen University from January 2015 to December 2021,were included in a retrospective study.The clinical data and testing result of semen analysis and sperm morphology were collected and combined with the literature for comprehensive analysis.Results Spermatogenesis dysfunction was discovered in 37 of 87(42.53%)male translocation carriers.The frequency of translocation varied from chromosome to chromosome,its influence on spermatogenesis was also different.Chromosome 1 occurred 16 times,but chromosome Y and 18 occurred only one time.Spermatogenesis dysfunction was observed in 4 cases.The 4 cases showed sex chromosomes translocation and complex chromosome rearrangement.A total of 122 breakpoint regions were identified.Among them,14 chromosomal bands occurred 3 or more times.Different breakpoint regions had a different influence on the sperm quality.The carriers of Xq28 breakpoint were azoospermatism.Spermatogenesis dysfunction occurred in 3 of 4 carriers involving band 19q13.Conclusion The results indicate genetic heterogeneity on spermatogenesis in the male carriers of chromosomal balanced translocation.Clinical manifestations range from normal to oligozoospermia,asthenozoospermia or even azoospermia.Chromosome 1 is most frequently involved.The translocation of Xq28 has the most serious influence on spermatogenesis.All these carriers are diagnosed with azoospermia.

关 键 词：核型分析 染色体断裂点 平衡易位 生精缺陷 

分 类 号：R698.2[医药卫生—泌尿科学]