生殖医学杂志2023，Vol.32Issue(12)：1782-1789,8.DOI:10.3969/j.issn.1004-3845.2023.12.004
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
摘要
Abstract
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 2 754 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=2 661),abnormal chromosome karyotype group(n=7)and chromosomal polymorphisms groups(n=86)to compare their general conditions and semen parameters. Results:Of the 2 754 sperm donors,93 donors were found to have chromosomally karyotypic abnormalities or chromosomal polymorphisms with a detection rate of 3.38％(93/2 754).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(13th,14th,15th)/G(21st,22nd,and Y)group chromosomes,with polymorphisms accounting for 34.88％(30/86).Secondly,there was an increase in secondary constriction of chromosome 1st,9th,and 16th 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 sperm donors,strictly adhere to their genetic screening standards,and eliminate donors who are found to have chromosomal karyotype abnormalities or chromosomal polymorphisms to reduce the genetic risk and birth defects of donor sperm generations.关键词
捐精志愿者/染色体筛查/染色体多态性Key words
Sperm donor/Chromosome screening/Chromosomal polymorphisms分类
医药卫生引用本文复制引用
鲜泱,刘博,应丽娟,刘晓,柳莎莎,赵文瑞,罗雪峰,徐金艳,李福平..四川地区2 754名供精志愿者染色体筛选及结果分析[J].生殖医学杂志,2023,32(12):1782-1789,8.基金项目
四川省科技厅重点研发项目(2022YFS0045) （2022YFS0045）
四川省科技厅自然科学基金项目(2023NSFSC1609) （2023NSFSC1609）
