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AnIntroduction
toGENETIC
DISORDERS
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What are genetic disorders?
•A genetic disorder is an abnormal condition that a person inherits through genes or chromosomes.
•Do you know of any genetic disorders?
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Two types of Genetic Disorders
– Gene Disorders: a genetic disorder that only affects a single gene.
– Chromosome Disorders: a genetic disorder that is caused by the addition or subtraction of one or more chromosomes.
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Cause of Genetic Disorders• Genetic disorders are caused by
mutations, or changes in a person’s DNA.
• Mutations occur when there is a change in the order of the bases in an organism’s DNA.
• The 3 types of mutations are:– Deletion – when a base pair is left out– Insertion – an extra base pair is added– Substitution – when an incorrect base
replaces a correct base
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Mutations• Substitution
– AAACACGGG– TTTGTGCCC
• Deletion– AAACCGGG– TTTGGCCC
• Insertion– AAACACCGGG– TTTGTGGCCC
• Original DNA CodeAAACCCGGGTTTGGGCCC
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Mutagen
• A mutagen is anything that can cause a mutation in DNA.
• Examples of mutagens include:– Radiation– Asbestos– Chemicals in
cigarette smoke– Pollution
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Karotypes• A karyotype is an organized profile of a
person's chromosomes. • In a karyotype, chromosomes are arranged
and numbered by size, from largest to smallest.
• This arrangement helps scientists quickly identify chromosomal alterations that may result in a genetic disorder.
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Making a Karyotype
• To make a karyotype, scientists take a picture of someone's chromosomes, cut them out and match them up using size, banding pattern and centromere position as guides.
• http://learn.genetics.utah.edu/content/begin/traits/karyotype/
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Normal Human Karyotypes
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Gene Disorders
Cystic Fibrosis
Sickle Cell Anemia
Hemophilia
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Cystic Fibrosis• Cystic Fibrosis is a gene disorder.• The mutation that leads to CF is on the
recessive allele. People with CF must inherit 2 copies.
• This gene is found on Chromosome 7.• Symptoms: the body produces
abnormally thick mucus in the lungs and intestines, making it hard to breathe and digest food.
Cystic Fibrosis
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Sickle Cell Anemia • Sickle Cell is a single gene disorder.• The mutation that leads to sickle cell is on the
recessive allele. People with it must inherit 2 copies.
• The mutation that causes sickle cell affects the production of an important protein called hemoglobin.
• Hemoglobin is the protein in red blood cells that carry oxygen.
• People with sickle cell disease suffer from lack of oxygen in the blood and experience pain and weakness.
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Sicke Cell Anemia
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Hemophilia• Hemophilia is a genetic disorder in
which a person’s blood clots very slowly or not at all.
• These people do not produce one of the proteins needed for normal blood clotting and could die from a minor cut or scrap; or from internal bleeding due to small bumps or bruising
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Hemophilia• Hemophilia is a sex-linked gene
disorder. This means the affected gene is found on the X chromosome.
• The mutation that leads to hemophilia is on the recessive allele. – Females must inherit 2 copies of the
recessive allele to inherit hemophilia.– Males only have to inherit 1 copy of the
recessive allele to inherit hemophilia because they only have 1 X chromosome. The Y chromosome does not have the hemophilia gene.
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• Normal Hemoglobin (protein)
– Glutamate (amino acid)
• Sickle Cell Hemoglobin (protein)
Valine (amino acid)
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Chromosome Disorders
• Down Syndrome – 3 copies of 21st chromosome
• Turner Syndrome – incomplete or missing X chromosome (girls only)
• Edward’s Syndrome – 3 copies of the 18th chromosome
• Triploidy – 3 copies of every
chromosome
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Down Syndrome• Down Syndrome is a chromosome
disorder in which a person’s cells have an extra copy of chromosome
# 21.
• The extra chromosome is due to an error in meiosis.
• People with Down Syndrome have a distinct physical appearance and
some degree of mental retardation.
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Smallest Girl in the world due to Primordial Dwarfism
• Smallest Girl in the World
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Primordial Dwarfism
• Kenadie Jourdin-Bromley weighed 2 lbs., 8 ounces when she was born in February 2003. She was not expected to live more than a day, but she has survived.
She continued to defy doctors expectations and at the age of 8 months, Kenadie was finally diagnosed with primordial dwarfism, a genetic condition that is believed to affect only about 100 people in the world. She stands 33 inches tall and weighs 17 pounds, roughly the size of an 18-month-old toddler. Kenadie is 7.
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Maddox Elise and Triploidy
• Mrs. Hodge’s daughter Maddox Elise (Maddie) was diagnosed with Triploidy on December 31, 2008.
• Maddie had a total of 69 chromosomes in each cell.
• She had a full extra set of chromosomes.
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Triploidy
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Triploidy
• Triploidy is a rare fatal genetic disorder that only happens in approximately 1% of pregnancies.
• Most babies diagnosed with Triploidy are not born alive.
• Triploidy can happen from an extra set of maternal OR paternal chromosomes.
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Maddox Elise Hodge
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Triploidy is RANDOM and doesn’t affect every pregnancy!