autosomal recessive defect
Học thuậtThân thiện
Definition
Noun: A genetic disorder or medical condition that manifests only when an individual inherits two copies of a mutated gene, one from each parent, and where that gene is located on an autosome (any chromosome that is not a sex chromosome).
Usage
This term is used in medical genetics and biology to classify and describe the inheritance pattern of certain hereditary diseases. * Cystic fibrosis is a classic example of an autosomal recessive defect. * For a child to be affected by an autosomal recessive defect, both parents must be carriers of the gene mutation.
Advanced Usage
- Carrier Status: A key concept related to autosomal recessive defects is that of a "carrier"—an individual who has one copy of the recessive mutant gene and one normal gene. Carriers are typically unaffected by the condition but can pass the mutant gene to their offspring.
- Genetic counseling often involves testing to determine if prospective parents are carriers for the same autosomal recessive defect.
Variants and Related Words
- Autosomal Recessive Disorder: A synonymous term commonly used in clinical settings.
- Autosomal Recessive Disease: Another common synonym.
- Autosomal Dominant Defect: A contrasting term for a disorder caused by a single copy of a mutant gene on an autosome.
Synonyms
- Recessive genetic disorder
- Autosomal recessive disorder
- Autosomal recessive disease
Related Concepts (Not Phrasal Verbs or Idioms)
- Autosome: Any of the numbered chromosomes (1-22 in humans), as opposed to the sex chromosomes (X and Y).
- Recessive Allele: A variant form of a gene whose effects are masked by a dominant allele; it is expressed only when two copies are present.
- Homozygous: Having two identical alleles for a particular gene (e.g., two mutant alleles).
- Heterozygous: Having two different alleles for a particular gene (e.g., one mutant and one normal allele, characteristic of a carrier).
Noun
- a disease caused by the presence of two recessive mutant genes on an autosome