The concept of genetic factor was first put forward by Mendel. His three laws of heredity laid the foundation of genetics. However, under the historical conditions at that time, his scientific discoveries and viewpoints did not attract the attention of his colleagues in the field of biology. After being forgotten for 35 years, it was rediscovered in 1900 by H. de Vries in the Netherlands, C. Collens in Germany and E. tschermak in Austria.

1909, the Danish biologist W. Johannsen coined the word gene according to the Greek meaning of "giving life" and replaced Mendel's "genetic factor" with this word. But the gene he said does not represent a material entity, but an abstract unit, which has nothing to do with any visible morphological structure of cells. Therefore, the genes referred to at that time were only symbols of genetic traits, and there was no specific material concept related to genes.

T. H. Morgan, a famous American geneticist, has made outstanding contributions to the establishment of gene theory. He and his assistant used Drosophila as experimental materials, and for the first time linked genes representing specific traits with specific chromosomes, thus establishing the genetic chromosome theory. Then geneticists used the gene mapping technology developed at that time to construct the linkage map of genes, which further revealed that genes were arranged in linear order on chromosome carriers.