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Genetics Overview
How Chromosome Abnormalities Help Us Find Genes
 Genetic researchers use many different tools and strategies to
look at the genetic material (DNA) inside our cells to find the exact gene(s) that cause a
genetic disorder such as autism. One research method is to study chromosomes. Some individuals
do not have the usual pattern of 46 chromosomes. Occasionally, in the formation of an egg or
sperm, one or more of the chromosomes is damaged. This damage may be
- a rearrangement of a chromosome (a break and subsequent reattachment of chromosome pieces)
- an extra piece or entire extra chromosome
- a missing piece or entire missing chromosomes.
Damaged chromosomes can alter normal development by changing the function of the hundreds of
genes located in the part of the chromosome that is rearranged, copied, or missing.
Chromosomal rearrangements are sometimes useful to researchers as clues to find genes. When a
certain chromosome is rearranged in a person with autism, there may be a gene(s) within the
rearrangement that is damaged or not working. These types of chromosome differences have led
scientists to discover the genes associated with other genetic disorders, such as Duchenne muscular
dystrophy and neurofibromatosis. In autism, chromosomal rearrangements involving chromosomes 7 and
15 have been particularly helpful in leading to areas of potential interest.
[back to main Genetics Overview page]
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WHAT IS A GENE?
Genes are very small structures inside almost every cell of
the body. They are the instructions, or blueprints, that tell
our body how to grow and develop, build necessary proteins,
and thus determine an individual's characteristics, such as
eye color and blood type. More ...
HOW GENES ARE NAMED
You may wonder how genes are named. As you may have guessed,
some names are abbreviations for the full gene names. Other
genes are named after similar genes in other organisms. More ...
WHAT IS A CHROMOSOME?
Chromosomes are structures that contain genes. Chromosomes are
visible with a microscope and are located in the nucleus of a
cell. Almost every human chromosome contains thousands of individuals
genes. More ...
HOW GENOME SCREENS HELP US FIND GENES
In order to determine the genes that may be involved, scientists
also perform what are referred to as "genome screens." To do this
they use maps of the chromosomes in order to look for genes. More ...
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