Colman S D, Abernathy C R, Ho V T, Wallace M R
Department of Pediatrics, University of Florida College of Medicine, Gainesville 32610-0296, USA.
J Med Genet. 1997 Jul;34(7):579-81. doi: 10.1136/jmg.34.7.579.
We have been using heteroduplex analysis to assay individual exons within the NF1 gene in an effort to identify disease causing constitutional mutations in neurofibromatosis type 1 patients. Here we report the identification and characterisation of four insertional NF1 frameshift mutations in an analysis of exons 28-39 in a set of 78 patients. These include three 1 base pair insertions and one 2 base pair insertion. Three of these mutations can be attributed to replication slippage errors, while the mechanism behind the fourth may be related to formation of secondary structure during replication. It may be of significance that a majority of the previously reported small insertions in NF1 also lie within exons 28-39.
我们一直在使用异源双链分析来检测NF1基因内的各个外显子，以努力识别1型神经纤维瘤病患者中导致疾病的遗传性突变。在此，我们报告在一组78例患者的外显子28 - 39分析中鉴定并表征了四个插入性NF1移码突变。其中包括三个1个碱基对的插入和一个2个碱基对的插入。这些突变中的三个可归因于复制滑动错误，而第四个突变背后的机制可能与复制过程中二级结构的形成有关。此前报道的NF1中大多数小插入也位于外显子28 - 39内，这可能具有重要意义。
