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Nucleic acids consist of a chain of linked units called nucleotides. Each nucleotide consists of three subunits: a phosphate group and a sugar (ribose in the case of RNA, deoxyribose in DNA) make up the backbone of the nucleic acid strand, and attached to the sugar is one of a set of nucleobases.
An allele [1] (or allelomorph) is a variant of the sequence of nucleotides at a particular location, or locus, on a DNA molecule. [2]Alleles can differ at a single position through single nucleotide polymorphisms (SNP), [3] but they can also have insertions and deletions of up to several thousand base pairs.
This method of sequencing utilizes binding characteristics of a library of short single stranded DNA molecules (oligonucleotides), also called DNA probes, to reconstruct a target DNA sequence. Non-specific hybrids are removed by washing and the target DNA is eluted. [147] Hybrids are re-arranged such that the DNA sequence can be reconstructed.
The DNA sequence may be aligned with other DNA sequences to identify homologous sequences and locate the specific mutations that make them distinct. These techniques, especially multiple sequence alignment , are used in studying phylogenetic relationships and protein function. [ 176 ]
[2] [3] The mRNA sequence is determined by the sequence of genomic DNA. [4] In this context, the standard genetic code is referred to as 'translation table 1' among other tables. [3] It can also be represented in a DNA codon table. The DNA codons in such tables occur on the sense DNA strand and are arranged in a 5 ′-to-3 ′ direction.
These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype of the individual.
It is this linear sequence of nucleotides that make up the primary structure of DNA or RNA. Nucleotides consist of 3 components: Nitrogenous base. Adenine; Guanine; Cytosine; Thymine (present in DNA only) Uracil (present in RNA only) 5-carbon sugar which is called deoxyribose (found in DNA) and ribose (found in RNA). One or more phosphate ...
Single nucleotide substitutions with an allele frequency of less than 1% are sometimes called single-nucleotide variants (SNVs). [8] " Variant" may also be used as a general term for any single nucleotide change in a DNA sequence, [ 9 ] encompassing both common SNPs and rare mutations , whether germline or somatic .