Explaining terminology
| Deletion | One or more bps are removed (can also involve larger stretches of DNA; eg, a deletion of exons 48–50 in the DMD gene means a deletion starting in intron 47 and ending in intron 50) |
| Duplication | One or more bps are duplicated (can also involve larger stretches of DNA; eg, a duplication of exons 48–50 in the DMD gene means part of intron 47–exon 48–intron 48–exon 49–intron 49–exon 50–part of intron 50 are present twice) |
| Exons | Parts of a gene that are included in the mRNA transcript and translated into protein (see also RNA transcript) |
| Frame-shift | Mutation (of any type) that leads to an altered reading frame, leading to the incorporation of aberrant amino acids and generally leading to premature truncation of translation due to stop codons present in the aberrant frame |
| Full dystrophin sequencing | Technically this would mean sequencing the complete 2.2 Mb that encompasses the DMD gene. Most often refers to performing mutation analysis for all exons of the DMD gene |
| Gene analysis | Performing DNA analysis of a specific gene to assess whether there is a mutation |
| Gene sequencing | Assessing the DNA sequence of an entire gene (promoter region, exons and introns and 3′ untranslated region) |
| Genetic confirmation | Identification of a disease-causing mutation in a gene when it has already been confirmed that the encoded protein is not produced/not functioning properly |
| Genetic testing | Performing DNA analysis to identify a disease-causing mutation |
| Genetic variation | Change from the reference DNA sequence that does not underlie a genetic disease |
| Introns | Parts of a gene that do not contain protein coding information. Introns are removed from the pre-mRNA during the splicing process (see also RNA transcript) |
| Inversion | Two or more bps are inverted in the DNA |
| Missense mutation | Point mutation that results in a changed amino acid |
| Mutation analysis | Assessing how a specific mutation in a gene leads to disease |
| Mutation type | Sort of mutation (eg, point mutation, deletion, duplication, translocation, inversion) |
| Mutation | Change in the DNA that underlies a genetic disease (usually present in a gene and abolishing or reducing production of a functional protein) |
| Nonsense mutation | Point mutation that introduces a premature stop codon |
| Point mutation | The change of one bp into another bp |
| RNA transcript | Single-stranded copy of a gene that initially contains exons and introns (pre-messenger RNA). During the splicing process, introns are removed and the exons linked to generate an mRNA that is translated into protein |
| Small mutation | A mutation involving a small number of bps (usually ≤3) |
| Translocation | Part of a chromosome is moved to another chromosome |
| Whole-exome analysis | Sequencing all known exons in the human genome (so all exons of >23 000 genes) |
| Whole-genome analysis | Sequencing the complete human genome (3000 Mb) |