Term: Autosomal Recessive Defect
Definition: An "autosomal recessive defect" is a type of genetic condition that occurs when a person inherits two copies of a mutated gene, one from each parent. These mutated genes are found on the autosomes, which are the chromosomes that are not related to sex (like gender). In this case, the condition only appears when both genes are defective (mutant). If a person has just one defective gene and one normal gene, they are called a carrier but usually do not show any symptoms of the disease.
Usage Instructions: You can use this term when discussing genetics, diseases, or conditions that are inherited in a specific way. It is often used in medical discussions or when talking about family health histories.
Example Sentence: "Cystic fibrosis is an autosomal recessive defect, so both parents must pass on the mutated gene for the child to be affected."
Advanced Usage: In more complex discussions, you might hear about how autosomal recessive defects are studied in genetics and how gene therapy is being developed to treat them. You might also encounter terms like "homozygous recessive," which refers to having two identical copies of the recessive gene.
Word Variants: - Autosomal (adjective): Relating to autosomes. - Recessive (adjective): A trait that is not expressed when a dominant gene is present. - Defect (noun): A flaw or imperfection, particularly in a genetic context.
Different Meanings:While "defect" commonly refers to a flaw in various contexts (like products or systems), in genetics, it specifically refers to a mutation that can lead to a disease.
Synonyms: - Genetic disorder - Hereditary disease
Idioms and Phrasal Verbs:There are no direct idioms or phrasal verbs specifically related to "autosomal recessive defect," but you might come across phrases like "carry a gene" (meaning to have one copy of a mutated gene without showing symptoms).