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Autosomal recessive mutation

Term · Chemistry · MLC-T-CHM-001008

A genetic alteration in a gene located on an autosome where two copies of the mutated gene, one inherited from each parent, are required for the trait or disease to be expressed. Individuals with only one copy are carriers and typically do not show symptoms. Cystic fibrosis is an example of an autosomal recessive disorder.

Table 1. Record
IdentifierMLC-T-CHM-001008
FieldChemistry
SubjectChemistry and Human Health
ReferencesPAC, 2016, 88, 713. 'Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)' on page 728 (https://doi.org/10.1515/pac-2015-1202)
See alsoAutosome
Record as JSON
{
  "id": "MLC-T-CHM-001008",
  "term": "Autosomal recessive mutation",
  "field": "Chemistry",
  "definition": "A genetic alteration in a gene located on an autosome where two copies of the mutated gene, one inherited from each parent, are required for the trait or disease to be expressed. Individuals with only one copy are carriers and typically do not show symptoms. Cystic fibrosis is an example of an autosomal recessive disorder.",
  "subject": "Chemistry and Human Health",
  "see_also": [
    "autosome"
  ],
  "references": [
    "PAC, 2016, 88, 713. 'Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)' on page 728 (https://doi.org/10.1515/pac-2015-1202)"
  ],
  "url": "https://mlchart.com/terminology/chemistry/autosomal-recessive-mutation/"
}

Record 1,086 of 13,676 in Chemistry terminology (MLC-0109). Request the full dataset.