Jenkins E C, Duncan C J, Krawczun M S, Berns L M, Sanz M M, Brown W T
Am J Med Genet. 1986 Jan-Feb;23(1-2):531-5. doi: 10.1002/ajmg.1320230145.
Using the FUdR system for fragile X induction, we have observed no triradial or bisatellited configurations at fra (X) (q27.3) in over 5,000 fra(X) chromosomes examined from over 150 fra(X) individuals. Based on our observations, and those of Turner and Jacobs (1983) and Daniel et al (1984), we hypothesize that triradial configurations may not occur at Xq27 with FUdR induction. To test this hypothesis we cultured whole blood simultaneously in parallel folate-deficient and FUdR fra(X) induction systems, and systematically examined fra(X) chromosomes for triradials. Neither autosomes nor X chromosomes exhibited any apparent triradial figures in the FUdR system, while 1.4% of the fra(X) chromosomes in TC 199 exhibited a triradial. Also we observed one autosomal triradial at 4q35. We conclude that triradial configurations occur in low frequencies in the folate deficient system and seldom if ever in the FUdR system.
使用氟脱氧尿苷(FUdR)系统诱导脆性X染色体,在对150多名脆性X个体检查的5000多条脆性X(X)染色体中,我们未在fra(X)(q27.3)处观察到三射体或双随体构型。基于我们的观察以及特纳和雅各布斯(1983年)以及丹尼尔等人(1984年)的观察,我们推测在FUdR诱导下,Xq27处可能不会出现三射体构型。为了验证这一假设,我们将全血同时在平行的叶酸缺乏和FUdR脆性X诱导系统中培养,并系统地检查脆性X染色体是否有三射体。在FUdR系统中,常染色体和X染色体均未显示任何明显的三射体形态,而在TC 199中,1.4%的脆性X染色体显示出三射体。此外,我们在4q35处观察到一个常染色体三射体。我们得出结论,三射体构型在叶酸缺乏系统中出现频率较低,而在FUdR系统中很少出现(如果曾经出现过的话)。