Each chromosome carries many genes, with each gene occupying a different position or locus; in humans, the total number of protein-coding genes in a complete haploid set of 23 chromosomes is estimated at 19,000–20,000.
Genes may possess multiple variants known as alleles, and an allele may also be said to reside at a particular locus.
Diploid and polyploid cells whose chromosomes have the same allele at a given locus are called homozygous with respect to that locus, while those that have different alleles at a given locus are called heterozygous.
The shorter arm of a chromosome is termed the p arm or p-arm, while the longer arm is the q arm or q-arm.
The chromosomal locus of a typical gene, for example, might be written 3p22.1, where:
- 3 = chromosome 3
- p = p-arm
- 22 = region 2, band 2 (read as "two, two", not "twenty-two")
- 1 = sub-band 1
Thus the entire locus of the example above would be read as "three P two two point one".
They appear differently upon staining (for example, euchromatin appears white and heterochromatin appears black on Giemsa staining).
|3||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).|
|22.1||The numbers that follow the letter represent the position on the arm: region 2, band 2, sub-band 1. 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 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.
- Chromosomal translocation
- Cytogenetic notation
- Null allele
- International System for Human Cytogenetic Nomenclature
Credits to the contents of this page go to the authors of the corresponding Wikipedia page: en.wikipedia.org/wiki/Locus (genetics).