A study on mutation detection on exons 32,33 of the neurofibromatosis type 1 gene

Objective To detect the mutation on exons 32,33 of Chinese the neurofibromatosis type 1 (NF1) gene. Methods The Exons 32,33 of the NF1 gene were analysed by using polymerase chain reaction single strand conformation polymorphism(PCR SSCP)technique in DNA separated from the peripheral blood of 62 members of 14 NF1 families and 30 normal controls. Results We found the mobility shift on exon 32 of NF1 in 4 patients (11.1%) from 3 families (21.4%),but none in the other members and all the normal controls. This mobility shift from DNA SSCP on exon 32 showed the mutation of NF1 gene. Using three different conditions of PCR SSCP, we had not found the mobility shift of the mutation on exon 33 of NF1 gene. Conclusion Exon 32 might be a hot spot of mutation in NF1 gene in Chinese. It was valuable for presymptomatic and antenatal diagnosis of NF1.