Skip to main content

A Lot More Detail

How Does Someone Get a Genetic Condition?

Many conditions are caused by one or more genes that work differently in the body.

Many conditions are caused by one or more genes that work differently in the body. Changes in a gene can cause it not to work or make it work improperly.

These changes can be passed down from biological parents to children. So, if a biological parent has a gene that does not work properly, there is a chance that they can pass it down to their child.

If you or a family member has been told you have a genetic condition, often the first question you ask is, “Are other family members at risk too?” This goes for any condition that comes from your genes—not just disease but eye or hair color, for example. The answer is: it depends.

Every child gets a mix of genes from their biological mother and father, and that child’s parents got a mix of genes as well. Genes are collected into groups called chromosomes, and chromosomes come in pairs. In a simple sense, a biological parent gives a child one chromosome for each pair, and those pairs work together to make your body look and work the way it does. Because of this pairing, sometimes a nonworking gene won’t cause problems—the other member of the pair may be able to do the work by itself.

The risks to other family members of having a genetic condition depends on two things:

Where are the gene variant(s) that cause the condition?

Do both gene copies need to have a genetic variant for the condition to occur?

We can’t always test everyone’s genes to see where the gene variants are, and sometimes brand new gene variants show up in a family, affecting only one person. But conditions can seem to “skip a generation,” too, and that’s where a family health portrait comes in.

What is an Inheritance Pattern?
Genetic traits can be passed from biological parent to child in different ways. 

Inheritance patterns help to explain why a condition can seem to “skip” a generation or be more common in boys than in girls.

Our genes are grouped into packages called chromosomes. Most people have 46 chromosomes, in 23 pairs. One of the pairs is the sex chromosomes, called X and Y. Your sex chromosomes carry the genes that make you biologically male or biologically female. Biological women have two X chromosomes, and biological men have an X and a Y. The rest of your chromosomes are called autosomal chromosomes.

Which type of chromosome the gene is on (either an autosome or sex chromosome) helps determine how the gene and health condition are passed on.

Autosomal dominant means that only one copy of the gene that does not work correctly is needed for someone to have the condition.

If one biological parent has an autosomal condition, they have one functional copy of the gene and one copy that does not work properly. If the other biological parent has two copies of the gene that work correctly:

  • There is a 1 in 2 chance (50%) of having a child who is unaffected by the condition.
  • There is a 1 in 2 chance (50%) of having a child who is affected by the condition.

 

Autosomal dominant conditions, such as Huntington’s disease, affect males and females equally.

 

Autosomal recessive means that a person needs two copies of a gene that do not work properly to have the condition. In this pattern, people with one working copy of the gene and one copy of the gene that does not function correctly are called carriers. Typically, carriers do not have any signs or symptoms of the condition, but they can still pass on the gene that does not function properly to their children. Parents of children with an autosomal recessive condition are almost always carriers.

If both parents are carriers of a condition:

  • There is a 1 in 4 chance (25%) of having a child who has two working copies of the gene.
  • There is a 1 in 4 chance (25%) of having a child who is affected by the condition. These children have two copies of the gene that do not work correctly.
  • There is a 1 in 2 chance (50%) of having a child who is a carrier of the condition.  These children have one working copy of the gene and one copy of the gene that does not work correctly.

 

Autosomal recessive conditions, such as cystic fibrosis, affect males and females equally.

X-linked Inheritance Patterns
Your sex chromosomes carry the genes that make you biologically male or female.

A female has two X chromosomes. A male has one X chromosome and one Y chromosome. If a gene for a condition is carried on the sex chromosomes, we say it is “sex-linked.” When the condition is carried on the X-chromosome, we say it is "X-linked." X-linked patterns are not as simple as autosomal patterns, because they show up differently in males and females.

X-linked dominant inheritance occurs when it only takes one X-chromosome gene that does not work correctly to cause the health condition. Conditions caused by X-linked dominance are rare, and the same condition can vary considerably in severity, especially among women. The odds of passing down a condition that is X-linked dominant are different depending on whether the mother or father has the gene that does not function properly and on the sex of the child. If a father has the condition:

  • He cannot (0% chance) pass on the gene that does not work correctly to his sons, because it is on his X chromosome. Men pass only the Y chromosome to their sons.
  • He will always (100% chance) pass on the gene that does not function properly to his daughters, because he only has one X chromosome, and he passes that X chromosome to all of his daughters.

 

If a mother has one working copy of the gene and one copy of the gene that does not work correctly:

  • There is a 1 in 2 chance (50%) of passing on the gene that does not function properly to both sons and daughters. 
  • There is a 1 in 2 chance (50%) of passing on the working gene to both sons and daughters.

 

Males are often more seriously affected than females by disorders inherited through X-linked dominance. Sometimes, even if a female inherits the gene change on one of her X chromosomes, she will not show symptoms or her symptoms will be less severe. It is thought that if a female has a working copy of the gene on one X-chromosome in addition to the altered copy on the other X-chromosome, the effects of the condition may be dampened. This has led some scientists to suggest that X-linked inheritance should not be described in terms of dominant and recessive, but rather simply be explained as X-linked inheritance.

X-linked recessive means that if there is one working copy of the gene, a person will not have the condition. The gene for these conditions is on the X chromosome. X-linked recessive conditions affect males more often than females. If a male has a copy of the gene that does not function the way it should on his only X chromosome, then he will be affected by the condition.

If a father has an X-linked recessive condition:

  • He can never (0% chance) pass on the gene that doesn’t work properly to his sons, because his sons will always get a Y chromosome from him.
  • He will always (100% chance) pass on the gene that doesn’t work properly to his daughters, because he only has one X chromosome, and it carries the gene that is not functioning correctly. The daughters may not have the condition, though, because they may get a copy of the gene that works correctly from their mother.

 

If a female has two copies of the gene that do not function correctly, then she will be affected by the condition. If she has a working copy on one X chromosome and a copy of the gene that does not work the way it should on her other X chromosome, then she is often called a female carrier. Female carriers of X-linked conditions may still be mildly affected by the disease. Female carriers can also pass the gene that does not work correctly on to their children.

If a mother has an X-linked recessive condition, then she has two copies of the gene that do not function properly:

  • She will always (100% chance) pass the gene that does not work correctly on to her sons.
  • Her sons will always (100% chance) be affected by the condition.
  • She will always (100% chance) pass the gene that does not work correctly on to her daughters.
  • If the father is also affected by the condition, then the daughter will be affected by the condition.
  • If the father does not have the condition, then the daughter will be a carrier.

 

If a mother is a carrier of an X-linked recessive condition, she has one functional copy of the gene and one copy that does not function correctly:

  • There is a 1 in 2 chance (50%) of giving the gene that does not work properly to her son, and those sons would be affected by the condition.
  • There is a 1 in 2 chance (50%) of giving her working gene to her son, and those sons would not be affected by the condition.
  • There is a 1 in 2 chance (50%) of passing on the gene that does not work properly to her daughter, so her daughter would also be a carrier.

 

If the mother is a carrier and the father has the condition, then there is a 1 in 2 chance (50%) that a daughter would be affected. She would always get the gene that does not work properly from her father, but she might get a working gene from her mother.

It’s Not Only About the Chromosomes
Mitochondrial inheritance, also called maternal inheritance, refers to genes in the mitochondria.  Mitochondria are found in each cell in the body. They are called the ‘powerhouses’ of the cell because they help make energy for the body from the food we eat.

Although these conditions affect both males and females, only mothers pass mitochondria on to their children. 

  • A father can never pass on a mitochondrial condition, because he does not pass on his mitochondrial genes.
  • If a mother is affected, her children will be affected, regardless of whether they are male or female, because she always passes her mitochondrial genes to all her children.

 

Diabetes mellitus and deafness (DAD) or Maternally Inherited Diabetes and Deafness (MIDD), is a rare form of diabetes that follows the mitochondrial inheritance pattern.

Learn More

Just The Facts

Family members share genes, habits, lifestyles, and surroundings.

A Little More Detail

Genetics helps explain what makes you unique, why family members look alike, and why some diseases run in families.

A Lot More Detail

Many conditions are caused by one or more genes that do not work correctly in the body.

About

The National Genetics Education and Family Support Center (Family Center) provides tools and resources to support family engagement and genetic services.

Contact info

4301 Connecticut Ave NW Suite 404 Washington, DC 20008-2369

[email protected]