Locus (genetics)

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

In biology and evolutionary computation, a locus (plural loci) is a fixed position on a chromosome, such as the position of a gene or a biomarker (genetic marker). A variant of the DNA sequence at a given locus is called an allele. The ordered list of loci known for a particular genome is called a genetic 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 at some locus are called homozygous, while those that have different alleles at a locus, heterozygous.

Nomenclature

The chromosomal locus of a gene might be written “6p21.3”.

Component	Explanation
6	The chromosome number.
p	The position is on the chromosome’s short arm (p for petit in French); q indicates the long arm.
21.3	The numbers following the letter represent the position on the arm: band 21, sub-band 3. The bands are visible under a microscope when the 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 locations 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 of sub-band 4 of band 1, and sub-band 1 of band 2.

The ends of a chromosome are labeled “ptel” and “qtel”, and so “2qtel” refers to the telomere of the long arm of chromosome 2.

External links

Overview at ornl.gov

Chromosome.
(1) Chromatid. One of the two identical parts of the chromosome after S phase.
(2) Centromere. The point where the two chromatids touch, and where the microtubules attach.
(3) Short arm
(4) Long arm.

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