四川地区2 754名供精志愿者染色体筛选及结果分析  

Chromosome screening and results analysis of 2 754 sperm donor in Sichuan area

作　　者：鲜泱 刘博[1] 应丽娟 刘晓 柳莎莎 赵文瑞 罗雪峰 徐金艳 李福平[1] XIAN Yang;LIU Bo;YING Li-juan;LIU Xiao;LIU Sha-sha;ZHAO Wen-rui;LUO Xue-feng;XU Jin-yan;LI Fu-ping(Andrology/Human Sperm Bank,Key Laboratory of Birth Defects&Related Diseases of Women and Children(Sichuan University),Ministry of Education,West China Second University Hospital,Sichuan University,Chengdu 610041)

机构地区：[1]四川大学华西第二医院生殖男科/人类精子库,出生缺陷与相关妇儿疾病教育部重点实验室,成都610041

出　　处：《生殖医学杂志》2023年第12期1782-1789,共8页Journal of Reproductive Medicine

基　　金：四川省科技厅重点研发项目(2022YFS0045);四川省科技厅自然科学基金项目(2023NSFSC1609)。

摘　　要：目的分析四川地区供精志愿者染色体筛选结果,为精子库排除志愿者遗传缺陷提供依据。方法选取2013年1月至2022年12月于四川大学华西第二医院生殖男科/人类精子库进行精液筛查的2754例供精志愿者,分析其染色体核型结果。据染色体结果将供精志愿者分为染色体正常组(2661例)、染色体核型异常组(7例)及染色体多态性组(86例),比较3组间的人群特征及精液参数。结果2754例供精志愿者中,有93例供精志愿者为染色体核型异常或染色体多态性,检出率为3.38%(93/2754)。染色体正常组、染色体核型异常组及染色体多态性组3组间的年龄、身高、体重及体质量指数(BMI)均无显著差异(P>0.05);3组间冷冻前及复苏后的精液质量也均无显著差异(P>0.05)。93例染色体核型异常或染色体多态性的供精志愿者中,染色体核型异常的志愿者有7例,占比7.53%(7/93);染色体多态性86例,占比92.47%(86/93)。染色体多态性中以D组(13、14、15号)和G组(21、22及Y)染色体随体区变异最多,多态性占比34.88%(30/86);其次为25例1号、9号、16号染色体次缢痕增加,多态性占比29.07%(25/86);9号染色体臂间倒位24例,多态性占比27.91%(24/86);Y染色体多态性变异7例,多态性占比8.14%(7/86)。结论对供精志愿者的染色体结果进行分析,严格把握其遗传学筛查标准,当志愿者出现染色体核型异常或染色体多态性时需将志愿者淘汰,以降低供精子代的遗传风险及出生缺陷。Objective:To analyze the results of chromosome screening of sperm donor in Sichuan area,in order to provide a basis for sperm banks to exclude genetic defects in sperm donor.Methods:A total of 2754 sperm donors who underwent semen screening at the Andrology/Human Sperm Bank of West China Second University Hospital from January 2013 to December 2022 were collected,and their chromosomal karyotype results were analyzed.According to their chromosomal results,the participants were divided into normal chromosome group(n=2661),abnormal chromosome karyotype group(n=7)and chromosomal polymorphisms groups(n=86)to compare their general conditions and semen parameters.Results:Of the 2754 sperm donors,93 donors were found to have chromosomally karyotypic abnormalities or chromosomal polymorphisms with a detection rate of 3.38%(93/2754).There was no significant difference in the general population characteristics(age,height,weight,BMI)among the normal chromosome group,abnormal chromosome karyotype group and chromosomal polymorphisms group(P>0.05).There was no significant difference in semen quality before cryopreservation and after thawed among the three groups(P>0.05).Among the 93 sperm donors with chromosomally karyotypic abnormalities or chromosomal polymorphisms,there were 7 sperm donors with karyotypic abnormalities,accounting for 7.53%(7/93),86 sperm donors with chromosomal polymorphisms,accounting for 92.47%(86/93).Among the chromosomal polymorphisms,the most chromosome variations were in satellite region of D(13 th,14 th,15 th)/G(21 st,22 nd,and Y)group chromosomes,with polymorphisms accounting for 34.88%(30/86).Secondly,there was an increase in secondary constriction of chromosome 1 st,9 th,and 16 th in 25 donors,with polymorphism accounting for 29.07%(25/86).There was inter-arm inversion of chromosome 9 in 24 donors,with polymorphisms accounting for 27.91%(24/86).There were had Y-chromosome polymorphism variation in 7 donors,with polymorphism accounting for 8.14%(7/86).Conclusions:In analyzing chromosome results of s

关 键 词：捐精志愿者 染色体筛查 染色体多态性 

分 类 号：R394.2[医药卫生—医学遗传学]