Single-strand conformation polymorphism (SSCP) assay for germline mutation in exon 2

Copyright information:Taken from "Novel mutations in the and genes in Iranian women with early-onset breast cancer"Breast Cancer Research 2002;4(4):R6-R6.Published online 16 Apr 2002PMCID:PMC116720.Copyright © 2002 Yassaee et al., licensee BioMed Central Ltd Lanes 1 and 4 show normal patterns, and lane 2 and 3 depict the abnormal patterns of single-strand DNA mobility seen on a polyacrylamide gel . Frameshift mutation in sample (lane 2) confirmed by direct sequencing that shows a 2 bp (AG) deletion in exon 2 at nucleotides 185–186 that leads to the formation of TGA at codon 39. A frameshift mutation (lane 3) identified by direct sequencing, which revealed a 1 bp (T) insertion in exon 2 between nucleotides 181 and 182, leading to the formation of TGA at codon 40. These frameshift mutations are likely to disrupt the function of the proteins.