Brandt C A, Hindkjaer J, Strømkjaer H, Pedersen S, Sunde L, Kølvraa S
Institute of Human Genetics, University of Aarhus, Denmark.
Eur J Obstet Gynecol Reprod Biol. 1993 Aug;50(3):235-42. doi: 10.1016/0028-2243(93)90206-r.
To illustrate the advantage of fluorescence in situ hybridization (FISH) in clinical genetics, we have chosen six clinical cases from our routine laboratory where we have used molecular cytogenic techniques to optimise the cytogenetic analysis. Using centromere-specific DNA probes and whole chromosome DNA libraries either obtained from somatic cell hybrids or generated from flow-sorted chromosomes, we have been able to identify small marker chromosomes, chromosomal duplications and inversions, to determine the ploidy in interphase nuclei, and to characterize subtle chromosomal translocations. We conclude that molecular cytogenetics is a valuable technique that should be used as a supplement to conventional cytogenetics to reduce the number of unresolved karyotypes in clinical genetics.
为说明荧光原位杂交（FISH）在临床遗传学中的优势，我们从常规实验室选取了6个临床病例，在这些病例中我们运用分子细胞遗传学技术优化细胞遗传学分析。使用着丝粒特异性DNA探针以及从体细胞杂种中获得或由流式分选染色体产生的全染色体DNA文库，我们得以识别小标记染色体、染色体重复和倒位，确定间期核的倍性，并鉴定细微的染色体易位。我们得出结论，分子细胞遗传学是一项有价值的技术，应作为传统细胞遗传学的补充，以减少临床遗传学中未解决核型的数量。
