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Mini-glossary of genetics terms
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Chromosomes, carriers, confusing! Get simple definitions that'll demystify doctor-speak.
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By Emily Kimber
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What if you could find out whether you'll get cancer? Or determine the likelihood of your children developing genetic birth defects?
Canadians are turning to genetic testing to get answers to a host of health questions. Genetic tests can determine whether you carry a certain genetic condition or disease, are likely to get one or whether you might pass it on to your children.
The vast amount of knowledge and research in genetics is exciting and, oftentimes, a little confusing. High school science class was more than a few years behind gene study -- were you really paying attention anyway? -- and terms like chromosomes and genes don't crop up in typical conversations. To better understand genetic testing, check out this mini-glossary of terms that cover the basics as simply as possible -- that means no doctor-speak!
Glossary of genetic terms
Alleles: Different forms of the same gene. Alleles produce differences in inherited genetic traits (e.g.: eye colour or blood type).
Acquired (or Somatic) mutations: Gene changes within individual cells that happen throughout a person's lifetime
Birth defect: A physically or mentally disabling condition present in an individual at birth. There are more than 4,000 known birth defects, some of which are fatal.
Carrier: A person who carries one copy of a mutant allele that can cause disease when paired with another mutant allele. The disease usually doesn't develop in the carrier, but if a carrier reproduces a child with another carrier, their child can develop the disease.
Carrier testing: Tests that can determine whether a person carries disease-causing recessive genes that could be inherited by their children. If you are a healthy person who is considered to be at high risk because of your family history, carrier testing is an option for you.
Congenital: Any trait or condition that exists from birth.
Chromosome: A microscopic part of a cell that contains hereditary information (DNA) in the form of genes. Every human has 23 pairs of chromosomes (46 in all), with half of our chromosomes coming from our father and half from our mother.
DNA: The chemical material inside of a cell that carries your genetic information.
Dominant: Dominant genes result in certain characteristics in a person, even when the relevant gene is only present in one parent. Dominant genes have a 50-50 chance of being passed on to a child. Autosomal dominant gene requires only one affected parent have the trait to pass it on to offspring.
Duplication: A type of mutation that happens when one or more copies is made from any piece of DNA, a gene, or a chromosome.
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