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Chromatin: Nucleosomes & Spacer DNA

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Chromatin: Nucleosomes & Spacer DNA

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  1. http://images.google.com/imgres?imgurl=http://cmgm.stanford.edu/biochem201/Slides/Chromatin%2520Structure/15%2520EM%2520of%2520Chromatin%2520Solenoid.JPG&imgrefurl=http://cmgm.stanford.edu/biochemhttp://images.google.com/imgres?imgurl=http://cmgm.stanford.edu/biochem201/Slides/Chromatin%2520Structure/15%2520EM%2520of%2520Chromatin%2520Solenoid.JPG&imgrefurl=http://cmgm.stanford.edu/biochem 201/Slides/Chromatin%2520Structure/&h=738&w=496&sz=160&tbnid=5v_1MWb3-tIJ:&tbnh=138&tbnw=93&start=5&prev=/images%3Fq%3Dchromatin%2Bpicture%26hl%3Den%26lr%3D%26ie%3DUTF-8%26sa%3DN

  2. Chromatin: Nucleosomes & Spacer DNA http://images.google.com/imgres?imgurl=http://www.people.virginia.edu/~zs9q/zsfig/chromatin1.jpg&imgrefurl=http://www.people.virginia.edu/~zs9q/zsfig/chromatin.html&h=600&w=600&sz=77&tbnid=KQ3b5wmq68sJ:&tbnh=133&tbnw=133&start=9&prev=/images%3Fq%3Dchromatin%2Bpicture%26hl%3Den%26lr%3D%26ie%3DUTF-8%26sa%3DN

  3. Normal male karyotype at the 650 band level.

  4. 11.32 11.3 11.31 11.23 11.22 p 11.2 11.21 11.1 11.1 11.2 11.2 12.1 12 12.2 12.3 q 21.1 21 21.2 21.31 21.32 21.33 22.1 22 22.2 22.3 23 23 Chromosome Nomenclature

  5. Chromosome Painting: SKY: Spectral Karyotyping

  6. FISH: Williams Syndrome Fluorescent in situ hybridization

  7. Down’s Syndrome

  8. http://www.bbc.co.uk/southyorkshire/myspace/dsa/index.shtml

  9. Erik Nichols and mother,St. Petersburg, FL http://www.sptimes.com/2002/05/12/TampaBay/Lifelong_devotion.shtml

  10. Erik Nichols, 21, and his sister, 17-year-old Lindsey,on their graduation from high school. (Saint Petersburg, FL) http://www.sptimes.com/News/052701/Northoftampa/Sharing_a_triumph_.shtml

  11. James Webster and mother, Anne http://www.dsne.homestead.com/NewParentsInfo.html

  12. Trisomy 21 Karyotype http://www.genecrc.org/site/lc/lc2e.htm

  13. Turner’s Syndrome

  14. Turner’s Syndrome Background: Described in 1938 by Henry Turner Cause isolated in 1960 (loss of one/part of one sex chromosome) Physical Symptoms: • Short Stature (mean height < 5 feet) • Failure to develop secondary sex characteristics • Maldeveloped Ovaries (infertility; high risk of ovarian cancer) • Variety of medical problems: cardiovascular, kidney, pancreas, skeletal, thyroid: MARKED VARIABLE EXPRESSIVITY • Minor physical anomalies: webbed neck, low set ears, puffy hands and feet: MARKED VARIABLE EXPRESSIVITY Behavioral Symptoms: • Normal intelligence • Normal personality (problems of self-esteem and body image that may be associated with physical anomalies) • Lowered spatial-visualization and quantitative reasoning • ? Higher stereotypical feminine interests

  15. Turner’s Syndrome Karyotype http://www.genecrc.org/site/lc/lc2e.htm

  16. XYY Karyotype http://www.xyy.nl/XYYMale.gif

  17. Chromosomal Microdeletions:Prader-Willi and Angelman Syndromes

  18. Gene imprinted (turned off) Gene not imprinted (turned on) D e l e t e d D e l e t e d PaternalDNA MaternalDNA Prader-WilliSyndrome AngelmanSyndrome

  19. http://www.ncbi.nlm.nih.gov/books/bv.fcgi?tool=bookshelf&call=bv.View..ShowSection&searchterm=prader&rid=gnd.section.182http://www.ncbi.nlm.nih.gov/books/bv.fcgi?tool=bookshelf&call=bv.View..ShowSection&searchterm=prader&rid=gnd.section.182

  20. http://www.mgm.ufl.edu/faculty/DDriscoll.htm

  21. Prader-Willi Syndrome Cause: • Usually caused by micro deletion in region q11-13 of the paternally transmitted chromosome 15. • Several genes in this region are genomically imprinted in the maternal chromosome. • Hence, if there is a paternal deletion in this region, there are no active genes. Symptoms: • Short stature • Mental retardation, learning difficulties • Decreased muscle tone • Hypogonadism • Emotional lability • Unregulated appetite or hyperphagia ( obesity)

  22. Prader Willi Syndrome http://www.bmb.psu.edu/faculty/simpson/lab/07impri/pws.jpg

  23. Tanis, a girl with PWS http://www.bmb.psu.edu/faculty/simpson/lab/07impri/pws.jpg

  24. Angelman Syndrome Cause: Microdeletion of region q11-13 of chromosome 15 that deletes agene(s) that is paternally imprinted. Symptoms: • Normal development until 6-12 months, then delayed development • Disproportionate head growth  microcephaly • Abnormal EEG, seizures • Marked deficit in language (no words to a few words) but better communication using nonvebral methods (e.g., facial expressions) • Motoric problems (balance problems, ataxia of gait, hypermotoric actions) • Attention problems (short attention span) • Emotional exuberance (frequent laughter, smiling)

  25. Angelman Syndrome http://asclepius.com/angel/phopag.html

  26. Angelman Syndrome http://asclepius.com/angel/phopag2.html

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