zChromosome 12 zPut on low protein diet zAvoid phenylalanine
TAY SACHS zResults in degeneration of the nervous system. zChromosome 15 zHighest rate in Eastern European Jews
Tay Sachs (cont) zLack enzyme to break down fat, accumulates in brain ztt zChromosome 15 zNOVA Online | Cracking the Code of Life | Watch the Program Here #3NOVA Online | Cracking the Code of Life | Watch the Program Here
Tay-Sachs Symptoms Symptoms first appear at 4 to 6 months of age when an apparently healthy baby gradually stops smiling, crawling or turning over, loses its ability to grasp or reach out, and eventually becomes blind, paralyzed and unaware of its surroundings. Death occurs by age 4.
Albinism zInability to manufacture pigments (melanin) in skin and eyes zAutosomal recessive trait zChromosome 11 z(will be in movie)
Sickle Cell Anemia zAutosomal dominant disease -#11 zRed blood cells collapse and clot blood vessels zFound in African- Americans
Sickle-Cells zNormal Red Blood Cells-like a donut zSickle-cells collapse, hard, clog vessels
Sickle-Cell Anemia zCodominant zSS = disease zAS = carrier (somewhat resistant to malaria) zAA =normal hemoglobin zSickle Cell Disease - What Causes Sickle Cell Disease Video - About.comSickle Cell Disease - What Causes Sickle Cell Disease Video - About.com
Sickle-Cell Complications 1.pain episodes 2.strokes 3.increased infections 4.leg ulcers 5.bone damage 6.yellow eyes or jaundice 7.early gallstones 8.lung blockage 9.kidney damage and loss of body water in urine 10.painful erections in men (priapism) 11.blood blockage in the spleen or liver (sequestration) 12.eye damage 13.low red blood cell counts (anemia) 14.delayed growth
Huntington’s Disease zWoody Guthrie’s disease (folksinger 1960’s) zAutosomal dominant zDoes not manifest itself until age 20’s - 30’s zH=dominant disease z#4
Huntington’s zChromosome 4 zAtrophy of brain zUncontrollable muscle spasms zHuntington's Disease Information - HOPES - HOPES Video Player (SWF)Huntington's Disease Information - HOPES - HOPES Video Player (SWF) z(segment 4) zNew Treatment for Huntington's Disease - Health Videos - redOrbitNew Treatment for Huntington's Disease - Health Videos - redOrbit
Early or mild stage: zmemory loss, especially of recent events zdifficulty in recalling names and conversations zmisplacing objects zbecoming lost in familiar neighborhoods zrepeating stories and conversations zdifficulty in learning new information zpersonality changes zdecreased motivation and drive zeasily upset or anxious
Marfan Syndrome za connective tissue disorder, zAffects skeleton, lungs, eyes, heart and blood vessels. zunusually long limbs zaffected Abraham Lincoln.
Marfan Syndrome zautosomal dominant disorder z chromosome 15 z(will be in movie)
Kleinfelter’s Testes are small and fail to produce normal levels of testosterone which leads to breast growth (gynaecomastia) in about 40% of cases and to poorly developed secondary sexual characteristics.
BARR BODIES zWhen a female is born one of her X chromosomes is inactivated = a Barr Body (early in embryonic development) zUsed to test femaledness at Olympics zSo there is not excess of X info in females
Calico Cat zOnly females have 3 colors (orange, black, white) zLooks like “Pepper”
zGENETIC DISORDERS REFERENCE SHEET: Down Syndrome (Trisomy 21) Edward's Syndrome (Trisomy 18) Patau Syndrome (Trisomy 13) Klinefelter Syndrome (47, XXY) Turner Syndrome (45 XO) Metafemale (46XXX)-taller Autosomes (#1-22) so 44 if normal
Angelman Syndrome zDeletion of Chromosome 15 zIf inherited from FATHER zSymptoms: Short and obese, delayed development, frequent laughing