The nomenclature for DNA markers is fairly straightforward. If a marker is part of a gene or falls within a gene, the gene name is used in the designation. For example, the short tandem repeat (STR) marker TH01 is from the human tyrosine hydroxylase gene located on chromosome 11. The '01' portion of TH01 comes from the fact that the repeat region in question is located within intron 1 of the tyrosine hydroxylase gene. Sometimes the prefix HUM- is included at the beginning of a locus name to indicate that it is from the human genome. Thus, the STR locus TH01 would be correctly listed as HUMTH01.
DNA markers that fall outside of gene regions may be designated by their chromosomal position. The STR loci D5S818 and DYS19 are examples of markers that are not found within gene regions. In these cases, the 'D' stands for DNA. The next character refers to the chromosome number, 5 for chromosome 5 and Y for the Y chromosome. The 'S' refers to the fact that the DNA marker is a single copy sequence. The final number indicates the order in which the marker was discovered and categorized for a particular chromosome. Sequential numbers are used to give uniqueness to each identified DNA marker. Thus, for the DNA marker D16S539:
D16S539 D: DNA
16: chromosome 16
S: single copy sequence
539: 539th locus described on chromosome 16
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