【摘要】 目的：探讨荧光原位杂交技术（ＦＩＳＨ）在细胞遗传学异常染色休核型分析中的应用价值。方法：应用Ｘ，Ｙ，１３／２１，１８号染色体α卫星ＤＮＡ探针（包括生物素标记及地高辛标记的探针，）对原Ｇ带核型为４６，ＸＯ＋ｒ？）；４６，ＸＯ＋ｉ（Ｘｐ）９７％／４７，ＸＯ＋２ｉ（Ｘｐ）３％；４７．ＸＸＸ／４５，ＸＯ；４７，ＸＹ＋２１等４例的外周血染色体及间期细胞进行原位杂交，并用正常男、女核型作为阳性对照，以不加探针的杂液反应为阴性对照，杂交后用ＯｌｙｍｐｕｓＢＸ６０荧光显微镜观察玻片并照像。结果：原Ｇ带核型４７，ＸＹ＋２１；４７，ＸＸＸ／４５，ＸＯ与ＦＩＳＨ结果一致，分别诊断为先天性愚型及Ｔｕｒｎｅｒ综合征。原Ｇ带核型４６，ＸＯ＋ｒ？的ｒ是征，其真正核型是４６，ＸＯ＋ｄｉｃ（Ｙｑ）／４７，ＸＯ＋２［ｄｉｃ，ｉ（Ｙｑ）］。正确诊断为Ｙ染色体结构异常与性腺发育不全综合征。结论：对一些常规Ｇ带难以确诊的复杂染色体结构畸变核型。如环状、易位等，ＦＩＳＨ技术具有非常重要的效用。更多还原

【Abstract】 Objective To assess the reliability and possibility of usefulness of the technique of fluorescent in situ hybridization (FISH) in human cytogenetics. Methods Four patients with chromosome abnormality had been analyzed their peripheral blood lymphocytes or interphase cells by the traditional G banding analysis and FISH with four different chromosome α satellite DNA probes labeled by either biolin or digoxin.Four female and male cases were used as control group. Results Checking with the technique of FISH,the authors found that: Two patients with 47,XY+21 and 47,XXX/45,XO had also shown the same results by the traditional G banding analysis;the patients with 45,XO+r?had been clearly shown as 45,XO+r and the last patients with 46,XO+i(Xp)/47,XO+2i(Xp)diagnosed as Turner′s syndrome clearly showed the 46,XO,+dic i(Yq)/47,XO+2[dic,i(Yq)]. Conclusion The results suggest that the technique of FISH is very important in the analysis of chromosome,even in those with complex abnormality in the traditional G banding analysis.更多还原