Iowa Institute of Human Genetics

  • View Glossary Terms

  • H

    Han Chinese in Beijing, China (CHB):

    A sample set commonly used in human genetics research to represent the Han Chinese people, one of the 56 official ethnicities in China. No phenotypic information was collected on these samples.

    Haplotype:

    A series of neighboring alleles (genetic variants) at neighboring loci that are inherited as a unit.

    Haploinsufficiency:

    When a single copy of the normal gene product is insufficient for normal protein production and results in genetic disease.

    Het:

    See heterozygote

    Heteroplasmy:

    A mixture of mitochondria in a single cell. Some of the mitochondria may contain wild-type DNA and some may contain mutant DNA.

    Heterozygote (heterozygous):

    An individual with two different alleles at a given location/locus in the human genome.

    Homo:

    See homozygote

    Homoplasmy:

    When all of the mitochondria in a single cell are identical.

    Homozygote (homozygous):

    An individual who has two identical alleles at a given location/locus in the human genome, one on each chromosome of a pair.