Estimation of aneuploidy for chromosomes 3, 7, 16, X and Y in spermatozoa from 10 normospermic men using fluorescence in-situ hybridization
Estimation of aneuploidy for chromosomes 3, 7, 16, X and Y in spermatozoa from 10 normospermic men using fluorescence in-situ hybridization
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DOI：
10.1093/molehr/3.9.815
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发表时间：
1997-09-01
影响因子：
4
通讯作者：
Matthews, CD
中科院分区：
文献类型：
--
作者：
Downie, SE;Flaherty, SP;Matthews, CD
荧光原位杂交（FISH）是一种快速、有效的检测人类精子非整倍体的方法。在这项研究中，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的基线二体频率。对染色体3、X和Y采用三探针FISH方法，对染色体7和16采用双探针FISH方法。3、X、Y染色体共101 273个精子，单倍体（3X或3Y）占97.83%，二体（33X、33Y、3XX、3YY或3XY）占0.39%，二倍体（33XX、33YY或33XY）占0.85%。7号和16号染色体共有100 760个精子，单倍体（716）占98.9%，二体（7716或71616）占0.11%，二倍体（771616）占0.27%。单个染色体的二体频率不同（3号染色体，0.20%；7号染色体，0.05%；16号染色体，0.06%;X+Y, 0.19%）。3型二体的发生频率显著高于7型二体（P = 0.019）和16型二体（P = 0.022），性染色体二体的发生频率显著高于7型二体（P = 0.0058）和16型二体（P = 0.0067），而3型二体无显著差异（P = 0.73）。该正常精子群体的二体和二倍体（0.27-0.35%）估计值普遍较低，与最近的其他报道相似。
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 101 273 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 0.85% diploidy (33XX, 33YY or 33XY). A total of 100 760 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.