Sample Genome Sample Genome SlidesSlides

Julia KobleJulia Koble

Making Connections Between Genes Making Connections Between Genes and Diseasesand Diseases

CDC’s 2005 Science Ambassador CDC’s 2005 Science Ambassador ProgramProgram

The Human The Human GenomeGenome

23 chromosomes in 23 23 chromosomes in 23 chapterschapters

By By (insert teacher’s name)(insert teacher’s name)

(insert name of class)(insert name of class)

A Genome is like a BookA Genome is like a Book

23 Chapters: 23 types of 23 Chapters: 23 types of CHROMOSOMESCHROMOSOMES

Stories within the Chapters: Stories within the Chapters: GENESGENES Paragraphs: Paragraphs: EXONSEXONS

Words: Words: CODONSCODONS (all composed of 3 letters) (all composed of 3 letters) Letters: DNA Letters: DNA BASESBASES (A, T, C or G) (A, T, C or G) Typos: Typos: MUTATIONSMUTATIONS

Advertisement: Advertisement: IntronsIntrons (junk) (junk) Can be photocopied: Can be photocopied: REPLICATIONREPLICATION Can read itself: Can read itself: TRANSLATIONTRANSLATION

Chapter Chapter 11: Chromosome : Chromosome 11

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

11228 bp

myocilin

490 aa

may cause increased pressure in the eye by obstructing the aqueous outflow

Glaucoma

Description of GlaucomaDescription of Glaucoma Symptoms and Symptoms and

characteristicscharacteristics Glaucoma is an eye disease in which Glaucoma is an eye disease in which

the fluid pressure inside the eyes the fluid pressure inside the eyes slowly rises, leading to loss of vision slowly rises, leading to loss of vision and/or blindness.and/or blindness.

At first, there are no symptomsAt first, there are no symptoms

If glaucoma remains untreated, If glaucoma remains untreated, people may miss objects to the side people may miss objects to the side and out of the corner of their eye, and out of the corner of their eye, progressing to tunnel vision and progressing to tunnel vision and blindness.blindness.

Glaucoma is detected through a Glaucoma is detected through a comprehensive eye exam.comprehensive eye exam.

Normal Vision

As viewed by a person with glaucomaPictures used with permission from URL: http://www.nei.nih.gov/health/glaucoma/glaucoma_facts.asp

Description of Glaucoma Description of Glaucoma (cont.)(cont.)

Who is affected?Who is affected? Anyone, but the following have a Anyone, but the following have a higher risk:higher risk: African Americans over the age of 40African Americans over the age of 40 Everyone over the age of 60, especially Mexican AmericansEveryone over the age of 60, especially Mexican Americans People with a family history of glaucomaPeople with a family history of glaucoma

Outlook or quality of lifeOutlook or quality of life With early treatment, eyes may be protected from serious vision With early treatment, eyes may be protected from serious vision

lossloss Without treatment, individuals develop tunnel vision (only Without treatment, individuals develop tunnel vision (only

straight-ahead vision) and, over time, no vision (blindness).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 There is no cure for glaucoma; Vision that is lost cannot be

restored.restored.

ResearcherResearcher: Jane Sample: Jane Sample

How is it inherited?How is it inherited? Autosomal DominantAutosomal Dominant

G

g

g g

Gg

gg

Gg

ggPare

nt

wit

h

gla

ucom

a

No glaucoma

Key

G glaucoma gene

g non-glaucoma geneOffspring

with glaucoma

Interpretation

If one parent has glaucoma, each child has a 50% chance of developing glaucoma.

ReferencesReferences NCBI. Genes and Disease: Glaucoma [online]. NCBI. Genes and Disease: Glaucoma [online].

2003. [cited 2004 July 14]. Available at URL: 2003. [cited 2004 July 14]. Available at URL: http://www.ncbi.nlm.nih.gov/books/bv.fcgi?http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.127.call=bv.View..ShowSection&rid=gnd.section.127.

NCBI. Entrez [online]. 2003. [cited 2004 July 14]. NCBI. Entrez [online]. 2003. [cited 2004 July 14]. Available at URL: http://www.ncbi.nih.gov/Entrez/. Available at URL: http://www.ncbi.nih.gov/Entrez/.

National Eye Institute. Glaucoma: What you National Eye Institute. Glaucoma: What you should know [online]. 2004. [cited July 14]. should know [online]. 2004. [cited July 14]. Available at URL: Available at URL: http://http://www.nei.nih.gov/health/glaucoma/glaucoma_facts.www.nei.nih.gov/health/glaucoma/glaucoma_facts.aspasp..

Chapter Chapter 22: Chromosome : Chromosome 22

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

PAX3

21038 bp

Paired Box

Protein Pax-3

479 aa

Involved in transcription activation

Waardenburg Syndrome

Description of Description of Waardenburg SyndromeWaardenburg Syndrome

Symptoms and characteristicsSymptoms and characteristics Wide bridge of the noseWide bridge of the nose Differences in pigments such as 2 Differences in pigments such as 2

different colored eyesdifferent colored eyes White eyelashes and chunk of hair White eyelashes and chunk of hair

(forelock) in front (forelock) in front Premature graying of the hairPremature graying of the hair Some form of cochlear deafnessSome form of cochlear deafness There are at least 4 types of this disorderThere are at least 4 types of this disorder

Description of Description of Waardenburg Syndrome Waardenburg Syndrome

(cont.)(cont.) Who is affected?Who is affected?

Infants are born with this disorderInfants are born with this disorder

Outlook or quality of lifeOutlook or quality of life Depends on degree of hearing loss as there is Depends on degree of hearing loss as there is

great variationgreat variation Half with the gene have no hearing lossHalf with the gene have no hearing loss 1 out of 5 have severe enough loss to require 1 out of 5 have severe enough loss to require

some aid to communicatesome aid to communicate Some are deaf in one ear and not the otherSome are deaf in one ear and not the other Some are totally deafSome are totally deaf

ResearcherResearcher: Joe Sample: Joe Sample

How is it inherited?How is it inherited?

Autosomal DominantAutosomal Dominant

W

w

w w

Ww

ww

Ww

wwPare

nt

wit

h

WS

No WS

KeyW Waardenburg genew non-waardenburg geneOffspring

with Waardenburg Syndrome

Interpretation

If one parent has Waardenburg Syndrome, each child has a 50% chance of developing WS.

ReferencesReferences Boys Town National Research Hospital. Information on Boys Town National Research Hospital. Information on

Hearing Loss: Genetics and Deafness—Waardenburg Hearing Loss: Genetics and Deafness—Waardenburg Syndrome [online]. 2003. [cited 2004 July 14]. Available at Syndrome [online]. 2003. [cited 2004 July 14]. Available at URL: URL: http://www.boystownhospital.org/parents/info/genetics/waarhttp://www.boystownhospital.org/parents/info/genetics/waardenburg.aspdenburg.asp..

NCBI. Genes and Disease: Glaucoma [online]. 2003. [cited NCBI. Genes and Disease: Glaucoma [online]. 2003. [cited 2004 July 14]. Available at URL: 2004 July 14]. Available at URL: http://www.ncbi.nlm.nih.gov/books/bv.fcgi?http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.127.call=bv.View..ShowSection&rid=gnd.section.127.

NCBI. Entrez [online]. 2003. [cited 2004 July 14]. Available NCBI. Entrez [online]. 2003. [cited 2004 July 14]. Available at URL: http://www.ncbi.nih.gov/Entrez/.at URL: http://www.ncbi.nih.gov/Entrez/.

NIDCD. Waardenburg Syndrome [online]. 1999. [cited 2004 NIDCD. Waardenburg Syndrome [online]. 1999. [cited 2004 July 14]. Available at URL: July 14]. Available at URL: http://http://www.nidcd.nih.gov/health/hearing/waard.aspwww.nidcd.nih.gov/health/hearing/waard.asp..

Chapter Chapter 2323: : Chromosome Chromosome XX

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

DMDX14082

bp dystrop

hin

3562 aa

Strengthens muscle cells

Duchenne Muscular Dystrophy

Description of Duchenne Description of Duchenne Muscular DystropyMuscular Dystropy

Symptoms and characteristicsSymptoms and characteristics Generalized weakness and muscle wasting, Generalized weakness and muscle wasting,

affecting trunk and limb muscles firstaffecting trunk and limb muscles first Calves are often enlargedCalves are often enlarged Disease progresses slowly but will affect all Disease progresses slowly but will affect all

voluntary musclesvoluntary muscles Usually unable to walk around the age of 12Usually unable to walk around the age of 12 Early signs include delay in walking, Early signs include delay in walking,

frequent falling, and difficulty getting up frequent falling, and difficulty getting up from a sitting or lying positionfrom a sitting or lying position

Personal story can be found on the CDC’s Personal story can be found on the CDC’s Web site Web site (URL: (URL: http://www.cdc.gov/ncbddd/duchenne/egstory.htm)http://www.cdc.gov/ncbddd/duchenne/egstory.htm)

Description of Duchenne Description of Duchenne Muscular Dystropy (cont.)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 ageIs usually diagnosed when a child is 3 to 6 years of age

Outlook or quality of lifeOutlook or quality of life Usually fatal in the teens or early 20s, often due to Usually fatal in the teens or early 20s, often due to

respiratory and heart problemsrespiratory and heart problems There are not cures, only a few treatments to slow the There are not cures, only a few treatments to slow the

deterioration of the muslcesdeterioration of the muslces Adaptive technologies and assistance are needed to Adaptive technologies and assistance are needed to

improve quality of lifeimprove quality of life

ResearcherResearcher: Elizabeth Sample: Elizabeth Sample

How is it inherited?How is it inherited? Sporadic or Spontaneous (2/3 of the Sporadic or Spontaneous (2/3 of the

cases)cases) Sex-Linked or X-Linked (1/3 of the Sex-Linked or X-Linked (1/3 of the

cases)cases)

Xm

XM

XM Y

XMXM

Xm

Y

XMY

Mom

Carr

ier

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.

XmXM

Offspring that is a carrier for MD (girl)

ReferencesReferences CDC. Duchenne/Becker Muscular Dystrophy [online]. CDC. Duchenne/Becker Muscular Dystrophy [online].

2004. [cited 2004 July 14]. Available at URL: 2004. [cited 2004 July 14]. Available at URL: http://www.cdc.gov/ncbddd/duchenne/default.htm.http://www.cdc.gov/ncbddd/duchenne/default.htm.

MDA. Duchenne Muscular Dystrophy [online]. 2004. MDA. Duchenne Muscular Dystrophy [online]. 2004. [cited 2004 July 14]. Available at URL: [cited 2004 July 14]. Available at URL: http://www.mdausa.org/disease/dmd.cfm.http://www.mdausa.org/disease/dmd.cfm.

NCBI. Genes and Disease: Glaucoma [online]. 2003. NCBI. Genes and Disease: Glaucoma [online]. 2003. [cited 2004 July 14]. Available at URL: [cited 2004 July 14]. Available at URL: http://www.ncbi.nlm.nih.gov/books/bv.fcgi?http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.127.call=bv.View..ShowSection&rid=gnd.section.127.

NCBI. Entrez [online]. 2003. [cited 2004 July 14]. NCBI. Entrez [online]. 2003. [cited 2004 July 14]. Available at URL: http://www.ncbi.nih.gov/Entrez/.Available at URL: http://www.ncbi.nih.gov/Entrez/.