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Last Update: 21 March 2002

BASIC VOCABULARY

Biallelic: Found in two alleles. An allele is any of two or more alternative forms of a gene occupying the same chromosomal locus.

Introns and exons: Genes are transcribed as continous sequences, but only some segments of the resulting mRNAs contain information that codes for the gene's protein product. These segments are called exons. The regions between exons are known as introns, and are spliced from the RNA before the product is made.

Genome: 1.The complete gene complement of an organism, contained in a set of chromosomes (in eukaryotes), in a single chromosome (in bacteria), or in a DNA or RNA molecule (in viruses). 2.The full set of genes in an individual, either haploid or diploid.

Haplotype: A particular combination of alleles (alternative form of genes) or sequence variations that are closely linked on the same chromosome.

Messenger RNA (mRNA): A precursor RNA (RNA template) is constructed from the sequence of the gene because proteins are not synthesized directly from genomic DNA. This RNA, caleed mRNA, is then processed in various ways, including splicing, and used as a template for protein synthesis.

Mutation: An alteration in a genome compared to some reference state. They do not always have harmful efects.

Polymorphism: Region of the genome that varies between individual members of a population. To be called a polymorphism a variant should be present in a significant number in the population.