Genetics research studies how individual genes or groups of genes are involved in

health and disease. Understanding genetic factors and genetic disorders is important in
learning more about promoting health and preventing disease.

Some genetic changes have been associated with an increased risk of having a child
with a birth defect or developmental disability or developing diseases like cancer or
heart disease. Genetics also can help us understand how medical conditions happen.

How We Get Our Genes

People get (inherit) their chromosomes, which contain their genes, from their parents.
Chromosomes come in pairs and humans have 46 chromosomes, in 23 pairs. Children
randomly get one of each pair of chromosomes from their mother and one of each pair
from their father. The chromosomes that form the 23rd pair are called the sex
chromosomes. They decide if a person is male or female. A female has two X
chromosomes, and a male has one X and one Y chromosome. Each daughter gets an
X from her mother and an X from her father. Each son gets an X from his mother and a
Y from his father.

Genetic Disorders
Genetic disorders can happen for many reasons. Genetic disorders often are described
in terms of the chromosome that contains the gene. If the gene is on one of the first 22
pairs of chromosomes, called the autosomes, the genetic disorder is called an
autosomal condition. If the gene is on the X chromosome, the disorder is called X-
linked.

Genetic disorders also are grouped by how they run in families. Disorders can be
dominant or recessive, depending on how they cause conditions and how they run in
families.

Dominant
Dominant diseases can be caused by only one copy of a gene with a DNA mutation. If
one parent has the disease, each child has a 50% chance of inheriting the mutated
gene.

Recessive
For recessive diseases, both copies of a gene must have a DNA mutation in order to
get one of these diseases. If both parents have one copy of the mutated gene, each
child has a 25% chance of having the disease, even though neither parent has it. In
such cases, each parent is called a carrier of the disease. They can pass the disease
on to their children, but do not have the disease themselves.
Single Gene Disorders

Some genetic diseases are caused by a DNA mutation in one of a person’s genes. For
example, suppose part of a gene usually has the sequence TAC. A mutation can
change the sequence to TTC in some people. This change in sequence can change the
way that the gene works, for example by changing the protein that is made. Mutations
can be passed down to a child from his or her parents. Or, they can happen for the first
time in the sperm or egg, so that the child will have the mutation but the parents will not.
Single gene disorders can be autosomal or X-linked.

For example, sickle cell disease is an autosomal single gene disorder. It is caused by a

mutation in a gene found on chromosome 11. Sickle cell disease causes anemia and
other complications. Fragile X syndrome, on the other hand, is an X-linked single gene
disorder. It is caused by a change in a gene on the X chromosome. It is the most
common known cause of intellectual disability and developmental disability that can be
inherited (passed from one generation to the next).

Chromosomal Abnormalities
Different Number of Chromosomes
People usually have 23 pairs of chromosomes. But, sometimes a person is born with a
different number. If a person has an extra chromosome it is called trisomy. If a person
has a missing chromosome it is called monosomy.

For example, people with Down syndrome have an extra copy of chromosome 21. This
extra copy changes the body’s and brain’s normal development and causes intellectual
and physical problems for the person. Some disorders are caused by having a different
number of sex chromosomes. For example, people with Turner syndromeexternal
icon usually have only one sex chromosome, an X. Women with Turner syndrome can
have problems with growth and heart defects.
Changes in Chromosomes
Sometimes chromosomes are incomplete or shaped differently than usual. When a
small part of a chromosome is missing, it is called a deletion. If it has moved to another
chromosome, it is called a translocation. If it has been flipped over, it is called an
inversion.

For example, people with Williams syndromeexternal icon are missing a small part of

chromosome 7. This deletion can result in intellectual disability and a distinctive facial
appearance and personality.
Complex Conditions
A complex disease is caused by both genes and environmental factors. Complex
diseases also are called multifactorial. Most chronic diseases, like heart disease,
cancer, and diabetes, are complex conditions. For example, while some cases of
cancer are associated with inherited genetic changes, for example, Lynch
syndrome and hereditary breast and ovarian cancer, the majority most likely are caused
by changes in several genes acting together with environmental exposures.