A DE-NOVO NONSENSE MUTATION IN EXON 28 OF THE NEUROFIBROMATOSIS TYPE-1 (NF1) GENE

作者：SHEN MH^*; UPADHYAYA M

来源：Human Genetics, 1993, 92(4): 410-412.

DOI：10.1007/BF01247346

We have screened a total of 105 unrelated patients with neurofibromatosis type 1 (NF1) for mutations in exon 28 of the NF1 gene using heteroduplex analysis and single strand conformation polymorphism analysis. One novel mutation has been identified and characterised. This mutation involves a 13-bp deletion (AAACTGGCTGAGC or AACTGGCTGAGCA) from base position 5077 (or 5078) to 5089 (or 5090) of the cDNA coding sequence. This alteration leads to a reading frame shift with a premature amber termination signal (TAG) at codon 1694. In addition, there is a change from lysine to threonine at codon 1693. The truncated gene product is estimated to be 1125 amino acid residues shorter than the predicted normal protein (2818 amino acids).

• 出版日期1993-10
• 单位河北医科大学