O SlideShare utiliza cookies para otimizar a funcionalidade e o desempenho do site, assim como para apresentar publicidade mais relevante aos nossos usuários. Se você continuar a navegar o site, você aceita o uso de cookies. Leia nosso Contrato do Usuário e nossa Política de Privacidade.
O SlideShare utiliza cookies para otimizar a funcionalidade e o desempenho do site, assim como para apresentar publicidade mais relevante aos nossos usuários. Se você continuar a utilizar o site, você aceita o uso de cookies. Leia nossa Política de Privacidade e nosso Contrato do Usuário para obter mais detalhes.
DNA and Inheritance: The Genetic Basis of Batten Disease
What is autosomal recessive inheritance?
Some medical problems are caused by having two mutations in the same gene, one
inherited from each parent. This inheritance pattern is called autosomal recessive. In
this case, people with only one mutation are referred to as carriers, and usually have no
medical problems related to the mutation.
About Ambry Genetics
Ambry Genetics is committed to providing
friendly, knowledgeable client services and high
quality research and development in a cutting-
edge environment. Since our founding in 1999,
our test menu has grown to become one of the
most comprehensive in the world and our
reputation remains impeccable in the genetics
industry. We are proud to work with the Batten
Disease Support and Research Association. It is
an honor to support their mission to improve the
lives of individuals and families with Batten
What are genes and how are they inherited?
How is Batten disease inherited?
Each of us has about 20,000 genes in total, organized into structures called
chromosomes. We have a complete set of all these genes in every cell in our body.
Our chromosomes are stored inside the nucleus of the cell.
Our genes are responsible for telling our bodies how to grow, develop, and work. We
inherit one copy of most of our genes from our mother and our father. Everyone has
changes in their genes and that’s what makes us unique. However, some changes (called
mutations) can cause our body not to work properly and lead to medical problems.
parent. Parents of a person with Batten disease are
considered carriers because they each have one
mutation and no associated medical problems.
Siblings of people with Batten disease who are not
aﬀected may be carriers, or may not have
inherited any mutations from their parents.
Genetic testing can help to tell the diﬀerence.
Batten disease follows an
autosomal recessive inheritance
pattern. It is caused by the
combination of two mutations,
one that is inherited from each
When two parents are carriers for the same autosomal recessive disorder, there is a 1 in 4
(or 25%) chance in each pregnancy that the baby will inherit both mutations from the
parents and have medical problems. It is also possible that the baby will inherit only one
mutation and be a carrier (like his/her parents), or that the baby will inherit no mutations.
How can genetic testing help?
Genetic testing can help with:
• Conﬁrming a suspected diagnosis of
• Determining carrier status for siblings
• Allowing for genetic testing to help
those considering/having children
Genetic testing can ﬁnd mutations that cause Batten disease.
Right now, there are many genes that can be involved. This
makes testing important to help ﬁnd out which gene is involved.
So far, all genes are inherited in an autosomal recessive pattern.
Carrier motherCarrier father
Unaffected child Affected childCarrier child Carrier child
15 Argonaut, Aliso Viejo, CA 92656 Toll Free 866 262 7943 Fax 949 900 5501 ambrygen.com