Detection of NF1 exon 18 and 19 in a Neurofibromatosis type 1 family

Objective:To detect if there are any mutations within NF1 exon 18 and 19 of a neurofibromatosis type 1(NF1) family we find in ChenZhou.Methods:Polymerase chain reaction(PCR) are applied to amplify NF1 exon 18 and 19.Then the fragments are sequenced.Results:We found a missense mutation NF 1 exon 18 in IV1.Besides,there is a base pair replacement in the intron which connects exon 18 and 19 in II2.However,NF1 18 to 19 exons section sequence of the other two patients and normal members in the family were normal.Conclusion:NF1 could contain multiple mutations;Two mutations in NF1 exon 18 and intron linking exon 18 and 19 in two patients of this family might contribute to their disease.However,the two mutations sites are not shared by all the patients in this family.