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近年来，随着分子生物学技术的发展及制备探针技术的提高，荧光原位杂交（ｆｌｕｏｒｅｓｃｅｎ－ｃｅｉｎｓｉｔｕｈｙｂｒｉｄｉｚａｔｉｏｎ，ＦＩＳＨ）技术已被广泛应用于遗传学及其它相应学科中。本文选用Ｄ２１Ｚ１／Ｄ１３Ｚ１ＤｘＺ１探针与未培养的外周血间期白细胞进行荧光原位杂交来检测染色体非整倍体。结果表明：通过统计间期核中的杂交信号，能准确检出２１三体及Ｔｕｒｎｅｒ＇ｓ综合征，与常规细胞遗传学结果相符，该法省去了复杂的细胞培养过程和周期，不仅使常规的细胞遗传学得以简化，而且为产前诊断染色体非整倍体及肿瘤病因学的研究提供了捷径
In recent years, with the development of molecular biology technology and the improvement of preparation probe technology, fluorescence in situ hybridization (FISH) has been widely used in genetics and other related disciplines. In this paper, D21Z1 / D13Z1DxZ1 probe and non-cultured peripheral blood leukocytes were used for fluorescence in situ hybridization to detect chromosomal aneuploidy. The results show that trisomy 21 and Turner’s syndrome can be accurately detected by counting the hybridization signals in the interphase nucleus, which is consistent with the conventional cytogenetic results. This method eliminates the complicated cell culture process and cycle, Conventional cytogenetics is simplified and provides a convenient way to study prenatal diagnosis of aneuploidy and tumor etiology