What is hemizygous?

1 Answer
Jun 24, 2014

A chromosome in a diploid organism is hemizygous when only one copy is present. The cell or organism is called a hemizygote.

Hemizygosity is also observed when one copy of a gene is deleted, or in the heterogametic sex when a gene is located on a sex chromosome. For organisms in which the male is heterogametic, such as humans, almost all X-linked genes are hemizygous in males with normal chromosomes because they have only one X chromosome and few of the same genes are on the Y chromosome.

Transgenic mice generated through exogenous DNA microinjection of an embryo's pronucleus are also considered to be hemizygous because the introduced allele is expected to be incorporated into only one copy of any locus. A transgenic can later be bred to homozygosity and maintained as an inbred line to reduce the need to confirm the genotypes of each litter.