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Mutations Can GLOSSARY
Affect Your Genetic
Instructions GENE
A mutation can affect the genetic instructions in the A part of a DNA molecule that tells your
body. The instructions can be missing or body how to make a protein. A mutation
incorrect, changing the way proteins are produced.
This can result in the production of a protein that within certain genes can, for example,
does not work properly, or in some cases the protein lead to deficient protein, which can lead to
is not produced at all. Mutations can take the form genetic conditions. Gene therapy is under
of changed nucleotide pairings, extra DNA where it
doesn’t belong, missing DNA, or repeated DNA. investigation to evaluate the risks and
whether it can help the body to produce the
In people with hemophilia A or B, the genetic
mutation affects the body’s ability to produce a protein it needs.
protein called factor VIII or factor IX, respectively.
These proteins are critical for blood to clot. GENOME
There are 3 types of An organism’s complete set of genetic
genetic conditions material. It contains all of the instructions
needed for the organism to function. In
Monogenic conditions—like people, every cell that has a nucleus contains
hemophilia—are caused by a mutation
in a single gene. Other examples inlude a copy of the entire genome.
cystic fibrosis and Huntington disease.
MONOGENIC
Multifactorial inheritance conditions, CONDITIONS
or multi-gene conditions, develop from
multiple small genetic mutations and Monogenic conditions, such as hemophilia,
can lead to some of the more common are caused by a single gene not working
diseases we’re familiar with, such as properly. The cause of the malfunction
heart disease and diabetes. may be present in one or both copies of
chromosomes inherited from the parents.
Chromosome disorders are caused by
changes to the number or structure of (note: Factor VIII and IX and definition of hemophilia
chromosomes. Down syndrome is the removed because our readers tend to know this already)
most common disorder related to this
type of abnormality.
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