论文部分内容阅读
目的 评价荧光原位杂交技术 (FISH)在染色体异常核型分析中的应用价值。方法 应用 X着丝粒探针、Y染色体区域特异性探针 (PY3.4)对 8例外生殖器及第二性征发育不全、原 (继 )发闭经、无精子等病因前来就诊的患者及 2例正常男、女外周血进行 G显带分析及荧光原位杂交 ,杂交后用 Olympus BX6 0荧光显微镜观察玻片并照相。结果 FISH结果与原 G显带核型一致 ,8例患者中 1例核型为 45 ,X0 ;1例为 46 ,XX/ 45 ,X0 ;1例为 45 ,X0 / 47,XXX;1例为 46 ,Xi(Xq) ;1例为 45 ,X0 / 46 ,Xi(Xq) ,诊断为先天性卵巢发育不全 ;2例核型为 47,XXY,诊断为先天性睾丸发育不全 ;1例生殖器为男性的患者核型为 46 ,XX,诊断为性反转。结论 FISH技术可用于染色体异常的分析 ,能分析一些显带技术不易分辨的异常。由于 FISH技术在间期细胞中显示杂交信号 ,在极短的时间内可检测大量细胞 ,对于一些中期分裂相有限、分散不好的染色体以及那些不易发现的嵌合体等方面 ,有重要的应用价值。
Objective To evaluate the value of fluorescence in situ hybridization (FISH) in karyotype analysis of chromosomal abnormalities. Methods X-centromere probe and Y chromosome-specific probe (PY3.4) were used in the study of 8 patients with congenital and secondary sexual dysplasia, primary and secondary amenorrhea, azoospermia and other causes and Two normal male and female peripheral blood were analyzed by G-banding and fluorescence in situ hybridization. After hybridization, the slides were observed by Olympus BX60 fluorescence microscope and photographed. Results The FISH results were consistent with those of the original G-banding karyotypes. One of the 8 patients had a Karyotype of 45, X0; one was 46, XX / 45, X0; one was 45, X0 / 47, 46, Xi (Xq); 1 cases of 45, X0 / 46, Xi (Xq), diagnosis of congenital ovarian hypoplasia; 2 cases karyotype 47, XXY, diagnosis of congenital testicular hypoplasia; 1 case of genital Karyotype of male patients 46, XX, diagnosis of sexual inversion. Conclusion FISH can be used to analyze chromosomal abnormalities and to analyze some abnormalities that are not easily distinguished by banding technique. Because FISH technology shows hybridization signals in interphase cells, it can detect a large number of cells in a very short period of time. It has important application value for some mid-schizophrenic, poorly-distributed chromosomes and those hard-to-find chimeras .