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Estimation of aneuploidy for chromosomes 3, 7, 16, X and Y in spermatozoa from 10 normospermic men using fluorescence in-situ hybridization
Authors:Downie, SE   Flaherty, SP   Swann, NJ   Matthews, CD
Affiliation:Department of Obstetrics and Gynaecology, The University of Adelaide, The Queen Elizabeth Hospital, Woodville, Australia.
Abstract:Fluorescence in-situ hybridization (FISH) is a fast and efficient method ofestimating aneuploidy in human spermatozoa. In this study, we haveestimated baseline disomy frequencies in spermatozoa from a group of 10normospermic men, using stringent scoring criteria. A triple- probe FISHprocedure was used for chromosomes 3, X and Y, while a double-probe FISHmethod was used for chromosomes 7 and 16. A total of 101273 spermatozoawere scored for chromosomes 3, X and Y, resulting in 97.83% haploidy (3X or3Y), 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 7and 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 chromosomedisomy 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 generallylow and were similar to other recent reports.
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