Disease gene identification

Disease gene identification is a process by which scientists identify the mutant genotypes responsible for an inherited genetic disorder. Mutations in these genes can include single nucleotide substitutions, single nucleotide additions/deletions, deletion of the entire gene, and other genetic abnormalities. Disease gene identification is a process by which scientists identify the mutant genotypes responsible for an inherited genetic disorder. Mutations in these genes can include single nucleotide substitutions, single nucleotide additions/deletions, deletion of the entire gene, and other genetic abnormalities. Knowledge of which genes (when non-functional) cause which disorders will simplify diagnosis of patients and provide insights into the functional characteristics of the mutation. The advent of modern-day high-throughput sequencing technologies combined with insights provided from the growing field of genomics is resulting in more rapid disease gene identification, thus allowing scientists to identify more complex mutations. Disease gene identification techniques often follow the same overall procedure. DNA is first collected from several patients who are believed to have the same genetic disease. Then, their DNA samples are analyzed and screened to determine probable regions where the mutation could potentially reside. These techniques are mentioned below. These probable regions are then lined-up with one another and the overlapping region should contain the mutant gene. If enough of the genome sequence is known, that region is searched for candidate genes. Coding regions of these genes are then sequenced until a mutation is discovered or another patient is discovered, in which case the analysis can be repeated, potentially narrowing down the region of interest.