使用荧光原位杂交技术对10名精子正常男性的精子中3号、7号、16号、X和Y染色体的非整倍体进行评估。

Estimation of aneuploidy for chromosomes 3, 7, 16, X and Y in spermatozoa from 10 normospermic men using fluorescence in-situ hybridization.

作者信息

Downie S E, Flaherty S P, Swann N J, Matthews C D

机构信息

Department of Obstetrics and Gynaecology, The University of Adelaide, The Queen Elizabeth Hospital, Woodville, Australia.

出版信息

Mol Hum Reprod. 1997 Sep;3(9):815-9. doi: 10.1093/molehr/3.9.815.

DOI:10.1093/molehr/3.9.815

PMID:9358009

Abstract

Fluorescence in-situ hybridization (FISH) is a fast and efficient method of estimating aneuploidy in human spermatozoa. In this study, we have estimated baseline disomy frequencies in spermatozoa from a group of 10 normospermic men, using stringent scoring criteria. A triple-probe FISH procedure was used for chromosomes 3, X and Y, while a double-probe FISH method was used for chromosomes 7 and 16. A total of 101273 spermatozoa were scored for chromosomes 3, X and Y, resulting in 97.83% haploidy (3X or 3Y), 0.39% disomy (33X, 33Y, 3XX, 3YY or 3XY) and 0.35% diploidy (33XX, 33YY or 33XY). A total of 100760 spermatozoa were scored for chromosomes 7 and 16, giving 98.9% haploidy (716), 0.11% disomy (7716 or 71616) and 0.27% diploidy (771616). Disomy frequencies for individual chromosomes differed (chromosome 3, 0.20%; chromosome 7, 0.05%, chromosome 16, 0.06%; X + Y, 0.19%). The frequency of disomy 3 was significantly higher than disomy 7 (P = 0.019) and disomy 16 (P = 0.022), while the frequency of sex chromosome disomy was significantly higher than disomy 7 (P = 0.0058) and disomy 16 (P = 0.0067), but not disomy 3 (P = 0.73). The disomy and diploidy (0.27-0.35%) estimates obtained for this normospermic population were generally low and were similar to other recent reports.

摘要

荧光原位杂交（FISH）是一种快速有效的估计人类精子非整倍体的方法。在本研究中，我们使用严格的评分标准，估计了一组10名正常精子男性精子中的基线二体频率。对3号、X和Y染色体采用三探针FISH程序，对7号和16号染色体采用双探针FISH方法。对3号、X和Y染色体共101273个精子进行评分，结果显示单倍体率为97.83%（3X或3Y），二体率为0.39%（33X、33Y、3XX、3YY或3XY），二倍体率为0.35%（33XX、33YY或33XY）。对7号和16号染色体共100760个精子进行评分，单倍体率为98.9%（716），二体率为0.11%（7716或71616），二倍体率为0.27%（771616）。各染色体的二体频率有所不同（3号染色体为0.20%；7号染色体为0.05%，16号染色体为0.06%；X+Y为0.19%）。3号染色体的二体频率显著高于7号染色体（P=0.019）和16号染色体（P=0.022），性染色体二体频率显著高于7号染色体（P=0.0058）和16号染色体（P=0.0067），但与3号染色体二体频率无显著差异（P=0.73）。该正常精子群体的二体和二倍体（0.27 - 0.35%）估计值总体较低，与其他近期报告相似。