A locus (plural loci), in genetics, is the specific location or position of a gene's DNA sequence, on a chromosome. Each chromosome carries many genes; humans' estimated 'haploid' protein coding genes are 20,000-25,000, on the 23 different chromosomes. A variant of the similar DNA sequence located at a given locus is called an allele. The ordered list of loci known for a particular genome is called a gene map. Gene mapping is the process of determining the locus for a particular biological trait.
Diploid and polyploid cells whose chromosomes have the same allele of a given gene at some locus are called homozygous with respect to that gene, while those that have different alleles of a given gene at a locus, are called heterozygous with respect to that gene.
The chromosomal locus of a gene might be written "6p21.3". Because "21" refers to "region 2, band 1" this is read as "two one", not as "twenty-one". So the entire locus is "six P two one point three."
|6||The chromosome number.|
|p||The position is on the chromosome's short arm (a common apocryphal explanation is that the p stands for petit in French); q indicates the long arm (chosen as next letter in alphabet after p; alternatively it is sometimes said that q stands for queue meaning tail in French).|
|21.3||The numbers that follow the letter represent the position on the arm: region 2, band 1, sub-band 3. The bands are visible under a microscope when chromosome is suitably stained. Each of the bands is numbered, beginning with 1 for the band nearest the centromere. Sub-bands and sub-sub-bands are visible at higher resolution.|
A range of loci is specified in a similar way. For example, the locus of gene OCA1 may be written "11q1.4-q2.1", meaning it is on the long arm of chromosome 11, somewhere in the range from sub-band 4 of region 1 to sub-band 1 of region 2.
The ends of a chromosome are labeled "pter" and "qter", and so "2qter" refers to the terminus of the long arm of chromosome 2.
- "NCI Dictionary of Genetics". National Cancer Institute. Retrieved 13 December 2014.
- Peter D. Karp, Monica Riley (2009-01-11), Representations of Metabolic Knowledge (PDF)
Michael, R. Cummings. (2011). Human Heredity. Belmont, California: Brooks/Cole