Human Genetic Disorder Webquest Bianca Hernandez: Disorder Specialist Courtney Okoyeocha: Parent...
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Transcript of Human Genetic Disorder Webquest Bianca Hernandez: Disorder Specialist Courtney Okoyeocha: Parent...
Human Genetic Disorder
WebquestBianca Hernandez: Disorder Specialist
Courtney Okoyeocha: ParentErike Arias: Genetic Counselor
January 29, 2014Biology Honors
Period 6
Disorders
• The disorders we chose were:• Tay-Sachs Disease• Colorblindness
• My role is the Disorder Specialist
What type of disorder is it- gene or chromosomal?• Tay-Sachs Disease
• caused by genetic mutation in the HEXA (hexosaminidase A) gene - karyotype• HEXA is critical in the brain and spinal cord• enzyme found in lysosomes, which are the structures in
cells that break down toxic materials and act as a recycling center
• recessive gene disorder
• chromosome 15 • mutation reduces/eliminates the activity of the enzyme
HEXA, which prevents the enzyme from breaking down GM2 (ganglioside), which begins to accumulate abnormally in cells, builds up toxins, predominantly in nerve cells in the brain and spinal cord. • all this leads to the symptoms of Tay-Sachs Disease
What are the signs and symptoms of the disorder?• 3-6 months
• muscle weakness• an increased startle response• Sudden contractions of large muscle when falling
asleep
• 6-10 months• lose ability to perform tasks, ex. sitting• decreased eye movement/contact & attentiveness
• After 8-10 months• move less & less responsive • vision lose & seizures
Cont.• 2-4 years old
• trouble swallowing• progress into an unresponsive vegetative state• Usually death from pneumonia - inflammation of
lungs
What different tests could have been provided to
the parent to have found out about the disorder
before its birth?• Prenatal Testing• unborn babies could have been tested for the
HEXA
• Parents could have had a simple blood test to see if they are both carriers, allowing them to refer to a genetic counselor
What other names or abbreviations are used for the
disorder?• B variant GM2 gangliosidosis
• GM2 gangliosidosis, type 1
• HexA deficiency
• Hexosaminidase A deficiency
• TSD
What type of disorder is it- gene or chromosomal?
• Colorblindness• inherited sex-linked recessive disorder• 23 chromosome• Others include X Chromosome, chromosome 7 chromosome 2, and
chromosome 8
• 8-10% in men are affected
• Less than ½ of 1% in women affected
• Mutations in the red and green light-sensitive proteins located on the X Chromosome can cause colorblindness
• There are 3 categories• red-green color vision defects (most common)• blue-yellow color vision defects • complete absence of color vision – achromatopsia (severely
affected, rare)
What are the signs and symptoms of the
disorder?• Not being able to distinguish• different shades of red and green• different shades of blue and yellow• any colors
• ex. makes it hard to see the different colors of the rainbow and the color of the sky at sunrise and sunset
• ex. not being able to tell the difference between the traffic light colors
What different tests could have been provided to
the parent to have found out about the disorder
before its birth?• doctors use a simple eye chart w/ colors implanted in the patterned shapes
What other names or abbreviations are used for the
disorder?• Colorblindness
• Color Vision Deficiency
• Color Vision Defects
What kind of lifestyle your
child will have with this
disorder?• My child won’t have a lifestyle if the
form is infantile. If my child got the disorder later in, which is rare, my child would live a careful lifestyle.
How long your child will live?
• If my child got the disorder when he/she was an infant she will live about 4 to 5 years.
• But if my child got the disorder late around the mid-30s it depends on how severe the symptoms are
If your child with the disorder
will be able to have children of
his/her own?• No my child would not live long
enough if gotten as an infant.
• Yes if my child live long enough.
If you were to have more children, what
is the probability that the child will be
affected?• My child will have a 25% chance of
being affected.
What kind of lifestyle your
child will have with this
disorder?Colorblindness:
• My child will live a challenging lifestyle. It will a little challenging when learning some things.
How long your child will live?
• My child will live as long as he/she can. It will not affect his/her life spine.
If your child with the disorder
will be able to have children of
his/her own?• Yes my child can have his/her own
child
If you were to have more children, what
is the probability that the child will be
affected?• My child will have a 50% chance of
being affected if one parent is also.
Sites – Tay-Sachs• http://ghr.nlm.nih.gov/condition/tay-sachs-
disease
• http://rarediseases.info.nih.gov/gard/7737/resources/resources/1
• http://my.clevelandclinic.org/childrens-hospital/health-info/diseases-conditions/neurological-conditions/hic-tay-sachs.aspx
• http://ghr.nlm.nih.gov/gene/HEXA
• http://kidshealth.org/parent/medical/genetic/tay_sachs.html#
Sites - Colorblindness
• http://www.colourblindawareness.org/colour-blindness/inherited-colour-vision-deficiency/
• http://ghr.nlm.nih.gov/condition/color-vision-deficiency
• http://www.dnalc.org/view/15940-What-is-color-blindness-.html
• http://www.mayoclinic.org/diseases-conditions/poor-color-vision/basics/symptoms/con-20022091