Meyer G A, Blum N J, Hitchcock W, Fortina P
Department of Pediatrics, Naval Medical Center, Portsmouth, Virginia 23708-2197, USA.
J Pediatr. 1998 Sep;133(3):363-5. doi: 10.1016/s0022-3476(98)70270-7.
The purpose of this study was to determine the prevalence of the fragile X (FRAX) CGG trinucleotide expansion in a population of young girls (n = 45) diagnosed with pervasive developmental disorder (PDD). Their mean age was 43.7 months (range, 25 to 132 months). Diagnoses included autistic disorder (n = 20), PDD (n = 23), and Asperger's syndrome (n = 2). Molecular FRAX testing was performed on all patients by using the Southern gene blot technique. Genomic DNA was digested with both EcoRI and EagI, fractionated on agarose gel, and blotted and probed with the radiolabeled StB12.3 FMR-1 probe. None of the subjects were found to have an expansion of CGG in either the 2.8 kb or 5.2 kb fragments. A 95% CI, for the prevalence of the FRAX mutation in female subjects with PDD, has an upper bound of 2.9%. We conclude that the prevalence of FRAX positivity in girls with PDD is lower than previously reported. This raises the question of whether any association between FRAX and PDD in female subjects is specific to PDD or is related rather to the presence of mental retardation.
本研究的目的是确定在一群被诊断为广泛性发育障碍（PDD）的年轻女孩（n = 45）中脆性X（FRAX）CGG三核苷酸重复序列的发生率。她们的平均年龄为43.7个月（范围为25至132个月）。诊断包括自闭症谱系障碍（n = 20）、PDD（n = 23）和阿斯伯格综合征（n = 2）。通过Southern基因印迹技术对所有患者进行FRAX分子检测。基因组DNA用EcoRI和EagI进行消化，在琼脂糖凝胶上进行分离，然后用放射性标记的StB12.3 FMR - 1探针进行印迹和杂交。在2.8 kb或5.2 kb片段中，未发现任何受试者有CGG重复序列的扩增。患有PDD的女性受试者中FRAX突变发生率的95%置信区间上限为2.9%。我们得出结论，患有PDD的女孩中FRAX阳性率低于先前报道。这就提出了一个问题，即FRAX与女性受试者PDD之间的任何关联是特定于PDD，还是与智力迟钝的存在有关。
