Bourn D, Carter S A, Mason S, Gareth D, Evans R, Strachan T
Department of Human Genetics, University of Newcastle upon Tyne, UK.
Hum Mol Genet. 1994 May;3(5):813-6. doi: 10.1093/hmg/3.5.813.
The recent identification of the NF2 tumour suppressor gene has enabled large scale screening for pathological mutations in the gene. We have sought germline mutations in the NF2 gene by SSCP and heteroduplex analysis of cDNA and genomic DNA samples followed by cloning and sequencing of mutant alleles. In the present report we describe 11 putative pathological mutations, including five nonsense mutations, three short insertions or deletions causing frameshifts and three missense mutations. Most stop mutations and frameshift mutations were found in individuals expressing a severe phenotype while one of the three missense mutations was associated with a mild phenotype. Four unrelated NF2 patients of the 93 tested were found to have identical nonsense mutations caused by a C to T transition (C169) in a CpG dinucleotide, which is a potential mutational hotspot in the NF2 tumour suppressor gene.
最近对NF2肿瘤抑制基因的鉴定使得能够对该基因中的病理性突变进行大规模筛查。我们通过对cDNA和基因组DNA样本进行单链构象多态性（SSCP）和异源双链分析，随后对突变等位基因进行克隆和测序，来寻找NF2基因中的种系突变。在本报告中，我们描述了11个推定的病理性突变，包括5个无义突变、3个导致移码的短插入或缺失以及3个错义突变。大多数终止突变和移码突变见于表现出严重表型的个体，而3个错义突变之一与轻度表型相关。在93名接受检测的无关NF2患者中，有4名被发现具有相同的无义突变，该突变由CpG二核苷酸中的C到T转换（C169）引起，这是NF2肿瘤抑制基因中的一个潜在突变热点。
