Iowa Institute of Human Genetics

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    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.


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


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


    See heterozygote


    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.


    See homozygote


    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.