Sawyer J R, Johnson M P, Miller O J
Department of Pathology, University of Arkansas for Medical Sciences, Little Rock.
J Reprod Med. 1992 Jun;37(6):485-98.
Traditional cytogenetic methods have relied on tissue culture techniques to generate adequate mitotic cells for the analysis of chromosome disorders for prenatal diagnosis. Chromosome banding techniques allow the evaluation of mitotic cells for structural and numerical aberrations and define the nature of any rearrangement. With the advent of fluorescent in situ hybridization methodology, which combines the molecular technologies of chromosome-specific probes and in situ molecular hybridization, it has become possible to analyze chromosomal numerical and structural aberrations from interphase cells. The use of molecular cytogenetic techniques should greatly increase the speed and diagnostic resolution of clinical specimens.
传统的细胞遗传学方法依赖于组织培养技术来产生足够的有丝分裂细胞，用于产前诊断中染色体疾病的分析。染色体显带技术可评估有丝分裂细胞的结构和数量畸变，并确定任何重排的性质。随着荧光原位杂交方法的出现，该方法结合了染色体特异性探针和原位分子杂交的分子技术，使得从间期细胞分析染色体数量和结构畸变成为可能。分子细胞遗传学技术的应用应能大大提高临床标本的分析速度和诊断分辨率。
