畸形精子症患者精子染色体非整倍体的研究  

Study of the Sperm Chromosomal Aneuploidies of Teratozoospermic Men

作　　者：朱元[1] 伍琼芳[2] 辛才林[2] 赵琰[2] 林戈[1] 谭跃球[1] 程德华[1] 卢光琇[1] 

机构地区：[1]中南大学生殖与干细胞工程研究所,长沙410078 [2]江西省妇幼保健院生殖中心,南昌330006

出　　处：《生殖与避孕》2013年第2期93-98,共6页Reproduction and Contraception

基　　金：江西省卫生厅重大科技攻关计划;项目编号为20104010

摘　　要：目的:研究畸形精子症患者精子染色体的非整倍体率。方法:应用18号、X和Y染色体着丝粒探针,采用荧光原位杂交(FISH)技术比较畸形精子症患者(畸精组,n=18)和生育力正常且精子正常形态率、浓度、活力等均正常男性(对照组,n=5)精子中18号、X和Y染色体的非整倍体率。结果:畸精组共计数精子58 178条,对照组共计数精子16 369条。畸精组和对照组杂交效率分别为97.5%和98.3%;染色体非整倍体类型主要有二体(XX18、YY18、XY18、Y1818和X1818)和二倍体(1818XX、1818YY、1818XY)。畸精组和对照组的18号染色体二体率分别为0.29±0.16%和0.03±0.02%,性染色体二体率分别为0.65±0.24%和0.05±0.02%,二倍体率分别为0.14±0.12%和0.04±0.03%。18号、X和Y染色体非整倍体率组间均有统计学差异(P<0.05)。结论:与生育力和精液各参数均正常男性相比,畸形精子症患者18号、X和Y染色体非整倍体率明显升高。Objective： To explore the sperm chromosomal aneuploidies with teratozoospermic men. Methods： Sperm obtained from isolated teratozoospermic men （n=18） and control men with normal fertility （n=5） were analyzed using fluorescent in situ hybridization （FISH） to detect aneuplody of chromosomes 18, X and Y. Results： Totally 58 178 spermatozoa were counted from the teratozoospermia group and 16 369 spermatozoa were counted from the control, with the hybridization rates of 97.5% and 98.3%, respectively. The major types of chromosomal aneuploidies were disomy （YY 18, XX 18, XY 18, Y 1818 and X 1818） and diploidy （1818XX, 1818YY, 1818XY）. In the teratozoospermic group and the control, the disomy rates of 18 chromosome were 0.29 ± 0.16% and 0.03 ± 0.02%, the disomy rates of sex chromosome were 0.65 ±0.24% and 0.05 ±0.02%, the diploidy rates were 0.14 ± 0.12% and 0.04 ± 0.03%, respectively. All the differences between the 2 groups were significant （P〈0.05）. Conclusion： Sperm of isolated teratozoospermic men have higher rates of 18, X and Y chromosomal aneuploidies than those of the fertile controls.

关 键 词：畸形精子症 荧光原位杂交(FISH) 精子染色体 非整倍体 

分 类 号：R698.2[医药卫生—泌尿科学]