Any segment of an interrupted gene that is represented in the mature RNA product. Exonuclease An enzyme that cleaves nucleotides one at a time from an end of a polynucleotide chain. The set of correspondences between nucleotide pair triplets in DNA and amino acids in protein. A similar phenotype being caused by different mutations. Most commonly used for a similar phenotype being caused by mutations in different genes.
Allelic heterogeneity refers to different mutations in the same gene.
Genetic markers Alleles of genes, or DNA polymorphisms, used as experimental probes to keep track of an individual, a tissue, a cell, a nucleus, a chromosome, or a gene. The total genetic material of an organism, i.e. an organism's complete set of DNA sequences. Genotype The genetic constitution of an individual or, more specifically, the alleles at specific genetic loci. Heterozygous Having two different alleles at a given locus on a pair of homologous chromosomes. Homologous chromosomes Chromosomes that pair with each other at meiosis.