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Genetics 101

4 min read

When people talk about genetic testing, they often use scientific terms such as “gene,” “chromosome,” and “mutation.” It’s important to understand what these terms mean if you are considering genetic testing.

What’s in your DNA? Your DNA is the genetic material that determines your traits, from what color your eyes are to the shape of your face!. DNA is a code that is inherited. Your DNA was passed down to you from both of your parents, providing a set of instructions for your body’s growth and development. Within every cell in your body, there is a complete set of DNA instructions. This complete set of instructions is known as your genome. Your genome is large and incredibly complex, so it is organized into smaller pieces. Inside each cell, your DNA is split up and condensed into units called chromosomes. Each chromosome is made up of a long strand of DNA, contain the instructions that control several of your traits. In most human This website uses cookies to ensure you get the best which experience on our website.

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cells, there are 46 chromosomes, or two pairs of 23 chromosomes.

Chromosomes are composed of even smaller units called genes. Genes are short sequences of your DNA, each of which helps to determine your inherited traits.

Genes can affect either single traits or several traits. Because each person has pairs of chromosomes, each person has two copies of the same gene. More than 20,000 genes are encoded in the entire human genome!

Changes to your DNA: Mutations and abnormalities Remember, your DNA is a code that your cells can read and interpret. Inside your body, this code gets copied over and over again. It is copied in parent cells and passed on to egg and sperm cells, and it is copied in old cells and passed on to new cells as you grow and develop. Every time DNA molecules are copied, there is a chance that your DNA gets damaged or your cells make small mistakes.

Sometimes, these changes are harmless. Other times, these changes can be harmful, creating or putting you at risk for a health condition. Changes to your DNA are called mutations. There are several types of mutations, which can affect single genes or entire chromosomes.

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Small changes to gene sequences in your DNA are known as gene mutations. Gene mutations can be present in parent cells and passed down to offspring, or they can come about in the cells that make up your body as you grow. A gene mutation can alone cause a health condition, or a gene mutation may put you at higher risk for health conditions.

For example, cystic ďŹ brosis is a genetic disorder that is caused by a mutation in one gene, called CFTR. If a child inherits the CFTR gene with a mutation from both parents, the child will have cystic ďŹ brosis.

Breast and ovarian cancer can also have genetic roots, but these cancers are not caused by a single mutation alone. For instance, a mutation commonly associated with breast cancer is one in the BRCA2 gene. This mutation puts a person at higher risk for breast cancer. When BRCA2 contains a mutation, cells cannot repair damaged DNA as effectively as they should. This can, but doesn’t always, cause more mutations. These additional mutations can result in cancer.

Changes to your chromosomes Larger changes to your DNA may affect the organization of your chromosomes. Often, changes to your chromosomes can cause conditions that appear more severe than a genetic mutation, as more genes are affected by the change.

Sections of your chromosomes can be accidentally reordered or deleted.

Changes such as these are called chromosomal mutations. For example, 22q11.2 deletion syndrome is a rare genetic disorder caused by a chromosomal mutation, in which small section of chromosome 22 is deleted.

Entire chromosomes can also be copied or removed. These changes are known as chromosomal abnormalities. A widely known genetic disorder caused by chromosomal abnormality is trisomy 21, or Down Syndrome.

When a child is born with Down Syndrome, the child has three copies of chromosome 21, rather than the usual two copies.

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The human body and all of its genetic material are extremely complex. Yet, scientists have developed ways to understand and decode human DNA. Genetic testing involves looking at your DNA to detect mutations and abnormalities that may cause health conditions. Using advanced technology, genetic testing can pinpoint both small and large changes to your DNA. If changes are detected before you develop a disease or a disorder, this information may allow you to either prevent a condition or manage your risk.

GenomeSmart could help you understand the complex world of genetics and help you make more informed decisions about genetic testing References Single gene disorders Cystic ďŹ brosis genetics BRCA mutations Deletion syndrome

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