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Bloom's Syndrome
Transcript
Bloom's Syndrome
Brandon Furman
Hour 6
Inheritance
Autosomal Recessive
Parents carry copy of each mutated gene.
25% affected
50% carrier
25% unaffected
Causes
Funding
- Mutation on BLM Gene
- Chromosome 15
- Normally, produces Rec Q helicase
- Maintains DNA stability and suppresses crossing over.
- Crossing over increased ten-fold
- DNA becomes unstable
- 60 possible mutations
Donations can help other syndromes and cancer
12.48.53.153
Stichting Bloom Syndrome
Nistelfode, Netherlands
Bloom's Syndrome Foundation
7095 Hollywood Blvd. #583
Los Angeles, CA 90028
Sources
Additional Info
Symptoms
- Dr. David Bloom (1954)
- First studied in 1966
- 27 people
- No parents showed traits
- High SCE Rate can distinguish Bloom Syndrome from...
- Russell-Silver Syndrome
- Fanconi anemia
- Ataxia-telangiectasia
- Werner Syndrome
- Nijemen breakage syndrome
- Unusually short height
- Respiratory and ear infections
- Extreme photosensitivity
- Higher risk of cancer
- Higher risk of COPD
- Reddening of skin
- Learning disabilities (sometimes)
- Death usually in mid 20s due to cancer
- "Bloom Syndrome" US National Library of Genetics. Nov 2010. Web. 10 Apr. 2014
- Gale Encyclopedia of Genetic Disorders: Bloom Syndrome. Gale Group. Thompson Learning. 2002
- "Bloom Syndrome" The Gale Encyclopedia of Genetic Disorders. Ed. Laurie J. Fundukian. 3rd ed. Vol 1. Detroit. Gale, 2010. 214-217. Gale Virtual Reference Library. Web. 5 Apr 2014
- "Bloom's Syndrome" Jewish Federations. 2014. Web. 10 Apr 2014.
- "Contact/Donations" Bloom's Syndrome Foundation.org. Web. 10 Apr. 2014
Testing
Prevalence
- Extremely rare
- Estimated 1/6,330,000 of world.
- Ashkenazi Jews affected most
- 1/60,000 of Ashkenazi Jews
- 1/100 Ashkenazi Jews carriers
- 265 cases reported
- Precise incidence unknown
- SCE Analysis
- Childhood or Adulthood
- Blood sample treated and analyzed
- Sister chromatids exchange much more.
- Carrier testing available
- Specifically designed for Ashkenazi Jews.
- Prenatal tests available
- CVS or Amniocentis
Treatments/Cure
- No cure or treatment
- Early diagnosis important!
- Multivitamins
- Cancer surveillance
- Tumor removals
- Wear sunscreen, hat, or bonnet
- No X-Rays, Chemotherapy, or damaging environmental factors.
- Support Organizations Available
- Bloom Syndrome Registry
- Bloom's Syndrome Foundation
- Bloom's Connect (also on Facebook)
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