MLchartDataset catalogue

heterozygous genotype

Term · Oncology and biomedicine · MLC-T-ONC-003870

  1. A term that describes having two different versions of the same gene (one inherited from the mother and one inherited from the father). In a heterozygous genotype, each gene may have a different mutation (change) or one of the genes may be mutated and the other one is normal. For example, familial hypercholesterolemia (very high levels of cholesterol in the blood) can occur when a person is heterozygous for the LDLR gene, inheriting a mutated gene from one parent and a normal gene from the other parent.

  2. The presence of two different alleles at a particular gene locus. A heterozygous genotype may include one normal allele and one mutated allele or two different mutated alleles (compound heterozygote).

Table 1. Record
IdentifierMLC-T-ONC-003870
FieldOncology and biomedicine
ReferencesNCI Dictionary of Cancer Terms; NCI Dictionary of Genetics Terms
Record as JSON
{
  "id": "MLC-T-ONC-003870",
  "term": "heterozygous genotype",
  "field": "Oncology and biomedicine",
  "definitions": [
    "A term that describes having two different versions of the same gene (one inherited from the mother and one inherited from the father). In a heterozygous genotype, each gene may have a different mutation (change) or one of the genes may be mutated and the other one is normal. For example, familial hypercholesterolemia (very high levels of cholesterol in the blood) can occur when a person is heterozygous for the LDLR gene, inheriting a mutated gene from one parent and a normal gene from the other parent.",
    "The presence of two different alleles at a particular gene locus. A heterozygous genotype may include one normal allele and one mutated allele or two different mutated alleles (compound heterozygote)."
  ],
  "references": [
    "NCI Dictionary of Cancer Terms",
    "NCI Dictionary of Genetics Terms"
  ],
  "url": "https://mlchart.com/terminology/oncology/heterozygous-genotype/"
}

Record 8,474 of 17,721 in Oncology and biomedicine terminology (MLC-0111). Request the full dataset.