genetic defect
Học thuậtThân thiện
Definition
Noun: A genetic defect is a health condition caused by an abnormality in an individual's DNA. These defects are present from birth, though symptoms may appear at any point in life. They are inherited from one or both parents or can occur due to new mutations.
Usage
This term is used in medical, biological, and general contexts to describe conditions rooted in DNA. - It functions as a countable noun. - It is often modified by specific condition names (e.g., a rare genetic defect).
Examples
- The screening test can identify a genetic defect that leads to the disorder.
- Researchers are studying the genetic defect responsible for the condition.
- Some genetic defects affect physical development, while others impact metabolic processes.
Advanced Usage
- Carrier of a genetic defect: An individual who has one copy of a defective gene but does not show symptoms of the disease.
- She discovered she was a carrier of a genetic defect for cystic fibrosis.
- Inherited genetic defect: Explicitly emphasizes the condition was passed down from parents.
- The inherited genetic defect affected several generations of the family.
Variants and Related Words
- Genetic disorder: A more common synonym, often used interchangeably.
- Genetic disease: Emphasizes the condition as an illness.
- Hereditary defect: Highlights the heritable nature.
- Congenital defect: A broader term for any condition present at birth, which may or may not be genetic in origin.
- Mutation: A specific change in the DNA sequence that may or may not cause a defect.
Synonyms
- Inherited disorder
- Hereditary condition
- Genetic abnormality
Related Phrases
- Genetic predisposition: An increased likelihood of developing a disease based on genetic makeup, but not a definite defect.
- Chromosomal abnormality: A defect involving entire chromosomes or large segments, such as Down syndrome.
Noun
- a disease or disorder that is inherited genetically