FISH analysis of the chromosomal status of spermatozoa from three men with 45,XY,der(13;14)(q10;q10) karyotype
作者:F. Morel、C. Roux、J.-L. Bresson
DOI:10.1093/molehr/7.5.483
日期:2001.5.1
Meiotic segregation of chromosomes 13 and 14 was studied in the ejaculated spermatozoa of three men carrying a translocation der(13;14)(q10;q10). The spermatozoa of these patients and of a donor with a normal 46,XY karyotype (control) were analysed by two-colour fluorescent in-situ hybridization (FISH) with specific chromosomal painting of chromosomes 13 and 14, by two-colour FISH detecting chromosomes 18 and 21 and by triple-colour FISH for chromosomes X, Y and 8. For patients 1, 2 and 3, respectively, 81.34, 82.60 and 88.90% of the analysed nuclei showed normal or balanced chromosomal status, resulting from the alternate segregation of the translocation. The rates of spermatozoa with an unbalanced status (disomy and nullisomy, 13 or 14) resulting from the adjacent mode of segregation were estimated respectively at 18.06, 16.32 and 10.80 (for patients 1, 2 and 3). Additional colour FISH analysis with probes specific for chromosomes X, Y, 8, 18 and 21 showed a significant increase in some disomy frequencies (8, 18, 21, X and Y for patient 1, only 18 for patient 2) in comparison with the control. These results would seem to indicate an interchromosomal effect.
对三名携带易位der(13;14)(q10;q10)的男性的射精精子中第13和第14号染色体的减数分裂分离进行了研究。通过两色荧光原位杂交(FISH)技术,对这些患者的精子和一名正常46,XY核型捐赠者的精子(对照)进行了分析,采用了针对第13和第14号染色体的特异性染色体涂层的两色FISH,检测第18和21号染色体的两色FISH,以及针对第X、Y和8号染色体的三色FISH。对于患者1、2和3,分析的细胞核中正常或平衡染色体状态的比例分别为81.34%、82.60%和88.90%,这是由于易位的交替分离所导致。基于相邻分离模式,姊妹染色单体的失衡状态(第13或14号染色体的二体或缺失体)精子比例分别估计为18.06%、16.32%和10.80%(分别针对患者1、2和3)。采用针对第X、Y、8、18和21号染色体的特异探针进行额外的色彩FISH分析,显示与对照组相比,某些二体频率(患者1为8、18、21、X和Y,仅患者2为18)显著增高。这些结果似乎表明存在染色体间的效应。