Sample Genome Slides
Glaucoma is an eye disease causing increased eye pressure and potential vision loss. Learn about its symptoms, risk factors, inheritance pattern, and treatment options. Understanding the genetic link between specific genes and diseases can shed light on how conditions like glaucoma develop and progress.
Download Presentation
Please find below an Image/Link to download the presentation.
The content on the website is provided AS IS for your information and personal use only. It may not be sold, licensed, or shared on other websites without obtaining consent from the author.If you encounter any issues during the download, it is possible that the publisher has removed the file from their server.
You are allowed to download the files provided on this website for personal or commercial use, subject to the condition that they are used lawfully. All files are the property of their respective owners.
The content on the website is provided AS IS for your information and personal use only. It may not be sold, licensed, or shared on other websites without obtaining consent from the author.
E N D
Presentation Transcript
Sample Genome Slides Julia Koble Making Connections Between Genes and Diseases CDC s 2005 Science Ambassador Program
The Human Genome 23 chromosomes in 23 chapters By (insert teacher s name) (insert name of class)
A Genome is like a Book 23 Chapters: 23 types of CHROMOSOMES Stories within the Chapters: GENES Paragraphs: EXONS Words: CODONS (all composed of 3 letters) Letters: DNA BASES (A, T, C or G) Typos: MUTATIONS Advertisement: Introns (junk) Can be photocopied: REPLICATION Can read itself: TRANSLATION
Chapter 1: Chromosome 1 DNA Sequence 1228 bp Chromosome 1 Name of Protein myocilin Name of Gene GLC1A transcription Amino acid sequence 490 aa mRNA Cytoplasm translation A Cell Nucleus What does this protein make up or do? may cause increased pressure in the eye by obstructing the aqueous outflow Condition/Disease Glaucoma
Description of Glaucoma Symptoms and characteristics Glaucoma is an eye disease in which the fluid pressure inside the eyes slowly rises, leading to loss of vision and/or blindness. At first, there are no symptoms Normal Vision If glaucoma remains untreated, people may miss objects to the side and out of the corner of their eye, progressing to tunnel vision and blindness. As viewed by a person with glaucoma Pictures used with permission from URL: http://www.nei.nih.gov/health/glaucoma /glaucoma_facts.asp Glaucoma is detected through a comprehensive eye exam.
Description of Glaucoma (cont.) Who is affected? Anyone, but the following have a higher risk: African Americans over the age of 40 Everyone over the age of 60, especially Mexican Americans People with a family history of glaucoma Outlook or quality of life With early treatment, eyes may be protected from serious vision loss Without treatment, individuals develop tunnel vision (only straight-ahead vision) and, over time, no vision (blindness). Treatments include medicine, laser procedure and/or surgery. There is no cure for glaucoma; Vision that is lost cannot be restored. Researcher: Jane Sample
How is it inherited? Autosomal Dominant No glaucoma g g Key Gg Gg G G glaucoma gene Parent with glaucoma g non-glaucoma gene gg gg g Offspring with glaucoma Interpretation If one parent has glaucoma, each child has a 50% chance of developing glaucoma.
References NCBI. Genes and Disease: Glaucoma [online]. 2003. [cited 2004 July 14]. Available at URL: http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..Show Section&rid=gnd.section.127. NCBI. Entrez [online]. 2003. [cited 2004 July 14]. Available at URL: http://www.ncbi.nih.gov/Entrez/. National Eye Institute. Glaucoma: What you should know [online]. 2004. [cited July 14]. Available at URL: http://www.nei.nih.gov/health/glaucoma/glaucoma_facts.asp.
Chapter 2: Chromosome 2 DNA Sequence 1038 bp Chromosome Name of Protein Paired Box Protein Pax-3 Name of Gene PAX3 2 transcription oval oval Amino acid sequence 479 aa mRNA Cytoplasm translation A Cell Nucleus What does this protein make up or do? Involved in transcription activation Condition/Disease Waardenburg Syndrome
Description of Waardenburg Syndrome Symptoms and characteristics Wide bridge of the nose Differences in pigments such as 2 different colored eyes White eyelashes and chunk of hair (forelock) in front Premature graying of the hair Some form of cochlear deafness There are at least 4 types of this disorder
Description of Waardenburg Syndrome (cont.) Who is affected? Infants are born with this disorder Outlook or quality of life Depends on degree of hearing loss as there is great variation Half with the gene have no hearing loss 1 out of 5 have severe enough loss to require some aid to communicate Some are deaf in one ear and not the other Some are totally deaf Researcher: Joe Sample
How is it inherited? Autosomal Dominant No WS w w Key Ww Ww W W Waardenburg gene w non- waardenburg gene Parent with WS Offspring with Waardenburg Syndrome ww ww w Interpretation If one parent has Waardenburg Syndrome, each child has a 50% chance of developing WS.
References Boys Town National Research Hospital. Information on Hearing Loss: Genetics and Deafness Waardenburg Syndrome [online]. 2003. [cited 2004 July 14]. Available at URL: http://www.boystownhospital.org/parents/info/genetics/waardenburg.asp. NCBI. Genes and Disease: Glaucoma [online]. 2003. [cited 2004 July 14]. Available at URL: http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid =gnd.section.127. NCBI. Entrez [online]. 2003. [cited 2004 July 14]. Available at URL: http://www.ncbi.nih.gov/Entrez/. NIDCD. Waardenburg Syndrome [online]. 1999. [cited 2004 July 14]. Available at URL: http://www.nidcd.nih.gov/health/hearing/waard.asp.
Chapter 23: Chromosome X DNA Sequence 14082 bp Chromosome X Name of Protein dystrophin Name of Gene DMD transcription Amino acid sequence 3562 aa mRNA Cytoplasm translation A Cell Nucleus What does this protein make up or do? Strengthens muscle cells Condition/Disease Duchenne Muscular Dystrophy
Description of Duchenne Muscular Dystropy Symptoms and characteristics Generalized weakness and muscle wasting, affecting trunk and limb muscles first Calves are often enlarged Disease progresses slowly but will affect all voluntary muscles Usually unable to walk around the age of 12 Early signs include delay in walking, frequent falling, and difficulty getting up from a sitting or lying position Personal story can be found on the CDC s Web site (URL: http://www.cdc.gov/ncbddd/duchenne/egstory.htm)
Description of Duchenne Muscular Dystropy (cont.) Who is affected? Affects 1 in 3500 boys worldwide. Is usually diagnosed when a child is 3 to 6 years of age Outlook or quality of life Usually fatal in the teens or early 20s, often due to respiratory and heart problems There are not cures, only a few treatments to slow the deterioration of the muslces Adaptive technologies and assistance are needed to improve quality of life Researcher: Elizabeth Sample
How is it inherited? Sporadic or Spontaneous (2/3 of the cases) Sex-Linked or X-Linked (1/3 of the cases) Father-without MD XM Y Key Mom Carrier for MD XmXM XmY Xm m MD gene M non-MD gene Offspring with MD (boy) XMY XMXM XM Offspring that is a carrier for MD (girl) Interpretation If mom is a carrier for Duchenne Muscular Dystrophy, her sons have a 50% chance of being affected and her daughers have a 50% chance of being a carrier.
References CDC. Duchenne/Becker Muscular Dystrophy [online]. 2004. [cited 2004 July 14]. Available at URL: http://www.cdc.gov/ncbddd/duchenne/default.htm. MDA. Duchenne Muscular Dystrophy [online]. 2004. [cited 2004 July 14]. Available at URL: http://www.mdausa.org/disease/dmd.cfm. NCBI. Genes and Disease: Glaucoma [online]. 2003. [cited 2004 July 14]. Available at URL: http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSectio n&rid=gnd.section.127. NCBI. Entrez [online]. 2003. [cited 2004 July 14]. Available at URL: http://www.ncbi.nih.gov/Entrez/.
