Smeets D, Verhagen A, Hustinx T
Department of Human Genetics, Catholic University of Nijmegen, The Netherlands.
Mutat Res. 1989 Jun;212(2):223-9. doi: 10.1016/0027-5107(89)90073-0.
An extremely high frequency of fra 6q26 (25%) was detected during a routine cytogenetic investigation of a 9-year-old girl. This prompted us to perform an extensive study of fragile site expression in her cells and those of her parents and sister. The very high frequency of fragility at 6q26 which had been discovered initially in the proband was not detected in the first repeat culture under the same experimental conditions. However, in the second repeat culture fragility at 6q26 was clearly present again. In the 4 members of this family fragile site expression was found to vary significantly between repeat samples from the same person. Also, a specific order of individual fragile site expression appeared to be present. This order was the same for the different culture conditions used.
在对一名9岁女孩进行的常规细胞遗传学检查中，检测到fra 6q26的频率极高（25%）。这促使我们对她及其父母和姐姐细胞中的脆性位点表达进行广泛研究。最初在先证者中发现的6q26处极高的脆性频率，在相同实验条件下的首次重复培养中未检测到。然而，在第二次重复培养中，6q26处的脆性再次明显出现。在这个家庭的4名成员中，发现同一人的重复样本之间脆性位点表达存在显著差异。此外，似乎存在个体脆性位点表达的特定顺序。对于所使用的不同培养条件，这个顺序是相同的。
