DHPLC mutation scanning of coding exons, splice junctions, and flanking intronic portions of SOS1 did not reveal any putative pathogenic mutation in the nine subjects with a diagnosis of CFCS and negative for mutations in BRAF, KRAS, MAP2K1, and MAP2K2.
By performing extensive scanning of whole coding and flanking sequences of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene, we had previously identified the CF-causing mutations in black South African patients of different ethnic groups suspected with the disease.
Based on scanning of the coding exons by denaturing high-performance liquid chromatography (DHPLC) analysis and/or direct sequencing, no subject within this cohort harbored a mutation in PTPN11, KRAS, or RAF1.
Sequence-based analyses (including mutation scanning) of protein-coding mt genes, such as cox1 and nad1, have been particularly useful or population genetic studies [ 21, 27, 29- 31, 55- 59].
About 80% alleles from CF patients are identified if panels of the most frequent mutations are tested [ 56]; the analysis of mutations peculiar to specific ethnic-geographic groups may increase the detection rate [ 57], and the scanning of CFTR coding regions reveals mutations in up to 90% alleles [ 58, 59].
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Preliminary scans of the coding regions (CDS) and peptide libraries of the jumping ant, Harpegnathos saltator, and the carpenter ant, Camponotus floridanus, genomes (both version 3.3 [33]) found twelve and seven OBPs respectively.
