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 23 Chapters: 23 types of CHROMOSOMES Stories within the Chapters: GENES Stories within the Chapters: GENES Paragraphs: EXONS Paragraphs: EXONS Words: CODONS (all composed of 3 letters) Words: CODONS (all composed of 3 letters) Letters: DNA BASES (A, T, C or G) Letters: DNA BASES (A, T, C or G) Typos: MUTATIONS Typos: MUTATIONS Advertisement: Introns (junk) Advertisement: Introns (junk) Can be photocopied: REPLICATION Can be photocopied: REPLICATION Can read itself: TRANSLATION Can read itself: TRANSLATION

Chapter 1: Chromosome 1 mRNA transcription translation Amino acid sequence Name of Protein DNA Sequence Name of Gene Chromosome What does this protein make up or do? Condition/Disease GLC1A bp myocilin 490 aa may cause increased pressure in the eye by obstructing the aqueous outflow Glaucoma

Description of Glaucoma Symptoms and characteristics 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. 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 At first, there are no symptoms 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. 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. Glaucoma is detected through a comprehensive eye exam. Glaucoma is detected through a comprehensive eye exam. Normal Vision As viewed by a person with glaucoma Pictures used with permission from URL: /glaucoma_facts.asp

Description of Glaucoma (cont.) Who is affected? Anyone, but the following have a higher risk: Who is affected? Anyone, but the following have a higher risk: African Americans over the age of 40 African Americans over the age of 40 Everyone over the age of 60, especially Mexican Americans Everyone over the age of 60, especially Mexican Americans People with a family history of glaucoma People with a family history of glaucoma Outlook or quality of life Outlook or quality of life With early treatment, eyes may be protected from serious vision loss 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). Without treatment, individuals develop tunnel vision (only straight-ahead vision) and, over time, no vision (blindness). Treatments include medicine, laser procedure and/or surgery. Treatments include medicine, laser procedure and/or surgery. There is no cure for glaucoma; Vision that is lost cannot be restored. There is no cure for glaucoma; Vision that is lost cannot be restored. Researcher: Jane Sample Researcher: Jane Sample

How is it inherited? Autosomal Dominant Autosomal Dominant G g g g GgGg gg GgGg Parent with glaucoma No glaucoma Key G glaucoma gene g non-glaucoma gene 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] [cited 2004 July 14]. Available at URL: Section&rid=gnd.section.127. NCBI. Genes and Disease: Glaucoma [online] [cited 2004 July 14]. Available at URL: Section&rid=gnd.section Section&rid=gnd.section Section&rid=gnd.section.127 NCBI. Entrez [online] [cited 2004 July 14]. Available at URL: NCBI. Entrez [online] [cited 2004 July 14]. Available at URL: National Eye Institute. Glaucoma: What you should know [online] [cited July 14]. Available at URL: National Eye Institute. Glaucoma: What you should know [online] [cited July 14]. Available at URL:

Chapter 2: Chromosome 2 mRNA oval transcription translation Amino acid sequence Name of Protein DNA Sequence Name of Gene Chromosome What does this protein make up or do? Condition/Disease PAX bp Paired Box Protein Pax aa Involved in transcription activation Waardenburg Syndrome oval

Description of Waardenburg Syndrome Symptoms and characteristics Symptoms and characteristics Wide bridge of the nose Wide bridge of the nose Differences in pigments such as 2 different colored eyes Differences in pigments such as 2 different colored eyes White eyelashes and chunk of hair (forelock) in front White eyelashes and chunk of hair (forelock) in front Premature graying of the hair Premature graying of the hair Some form of cochlear deafness Some form of cochlear deafness There are at least 4 types of this disorder There are at least 4 types of this disorder

Description of Waardenburg Syndrome (cont.) Who is affected? Who is affected? Infants are born with this disorder Infants are born with this disorder Outlook or quality of life Outlook or quality of life Depends on degree of hearing loss as there is great variation Depends on degree of hearing loss as there is great variation Half with the gene have no hearing loss Half with the gene have no hearing loss 1 out of 5 have severe enough loss to require some aid to communicate 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 deaf in one ear and not the other Some are totally deaf Some are totally deaf Researcher: Joe Sample Researcher: Joe Sample

How is it inherited? Autosomal Dominant Autosomal Dominant W w w w WwWw ww WwWw Parent with WS No WS Key W Waardenburg gene w non- waardenburg gene Offspring with Waardenburg Syndrome 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] [cited 2004 July 14]. Available at URL: Boys Town National Research Hospital. Information on Hearing Loss: Genetics and Deafness—Waardenburg Syndrome [online] [cited 2004 July 14]. Available at URL: NCBI. Genes and Disease: Glaucoma [online] [cited 2004 July 14]. Available at URL: =gnd.section.127. NCBI. Genes and Disease: Glaucoma [online] [cited 2004 July 14]. Available at URL: =gnd.section =gnd.section =gnd.section.127 NCBI. Entrez [online] [cited 2004 July 14]. Available at URL: NCBI. Entrez [online] [cited 2004 July 14]. Available at URL: NIDCD. Waardenburg Syndrome [online] [cited 2004 July 14]. Available at URL: NIDCD. Waardenburg Syndrome [online] [cited 2004 July 14]. Available at URL:

Chapter 23: Chromosome X mRNA transcription translation Amino acid sequence Name of Protein DNA Sequence Name of Gene Chromosome What does this protein make up or do? Condition/Disease DMD X bp dystrophin 3562 aa Strengthens muscle cells Duchenne Muscular Dystrophy

Description of Duchenne Muscular Dystropy Symptoms and characteristics Symptoms and characteristics Generalized weakness and muscle wasting, affecting trunk and limb muscles first Generalized weakness and muscle wasting, affecting trunk and limb muscles first Calves are often enlarged Calves are often enlarged Disease progresses slowly but will affect all voluntary muscles Disease progresses slowly but will affect all voluntary muscles Usually unable to walk around the age of 12 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 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: Personal story can be found on the CDC’s Web site (URL:

Description of Duchenne Muscular Dystropy (cont.) Who is affected? Who is affected? Affects 1 in 3500 boys worldwide. Affects 1 in 3500 boys worldwide. Is usually diagnosed when a child is 3 to 6 years of age Is usually diagnosed when a child is 3 to 6 years of age Outlook or quality of life Outlook or quality of life Usually fatal in the teens or early 20s, often due to respiratory and heart problems 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 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 Adaptive technologies and assistance are needed to improve quality of life Researcher: Elizabeth Sample Researcher: Elizabeth Sample

How is it inherited? Sporadic or Spontaneous (2/3 of the cases) Sporadic or Spontaneous (2/3 of the cases) Sex-Linked or X-Linked (1/3 of the cases) Sex-Linked or X-Linked (1/3 of the cases) XmXm XMXM XMXM Y XMXMXMXM XmYXmY XMYXMY Mom Carrier for MD Father-without MD Key m MD gene M non-MD gene Offspring with MD (boy) 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. XmXMXmXM Offspring that is a carrier for MD (girl)

References CDC. Duchenne/Becker Muscular Dystrophy [online] [cited 2004 July 14]. Available at URL: CDC. Duchenne/Becker Muscular Dystrophy [online] [cited 2004 July 14]. Available at URL: MDA. Duchenne Muscular Dystrophy [online] [cited 2004 July 14]. Available at URL: MDA. Duchenne Muscular Dystrophy [online] [cited 2004 July 14]. Available at URL: NCBI. Genes and Disease: Glaucoma [online] [cited 2004 July 14]. Available at URL: n&rid=gnd.section.127. NCBI. Genes and Disease: Glaucoma [online] [cited 2004 July 14]. Available at URL: n&rid=gnd.section n&rid=gnd.section n&rid=gnd.section.127 NCBI. Entrez [online] [cited 2004 July 14]. Available at URL: NCBI. Entrez [online] [cited 2004 July 14]. Available at URL: