Presentation on theme: "HUMAN GENETICS Disorders. How information is taken to detect genetic disorders before birth zBlood test zAmniocentesis zChorionic villus sampling CVS."— Presentation transcript:
PKU on chromosome 12 Lacks the enzyme to break down the amino acid phenylalanine (found in milk)
PKU (cont.) zThe breakdown products can be harmful to developing nervous systems zLeads to mental retardation. zKate with PKU MovieKate with PKU Movie Julie has PKU; been treated all her life KUVAN®
PKU zChromosome 12 zrecessive zPut on low protein diet zAvoid phenylalanine
TAY SACHS zResults in degeneration of the nervous system. zChromosome 15 zrecessive zHighest rate in Eastern European Jews
Tay Sachs (cont) zLack enzyme to break down fat, accumulates in brain ztt zChromosome 15 zTay Sachs YouTubeTay Sachs YouTube 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
Pleiotropy zAlleles responsible for multiple symptoms zEX: sickle-cell anemia – low oxygen in blood, resistance to malaria, spleen damage, joint problems Plasmodium in blood
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
Familial (genetic) Hypercholesterolemia zAutosomal dominant-H zExcess cholesterol in the blood zChromosome 19
Most common is mutation in LDLR low-density lipoprotein receptor (bad cholesterol ) FH YouTube (good) 1:53FH YouTube
Huntington’s zChromosome 4 zAutosomal dominant 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 z40+ CAG’s zHowStuffWorks Videos "Treating Huntington's Disease"HowStuffWorks Videos "Treating Huntington's Disease"
Huntington’s zClumsiness zJaw clenching zLoss of coordination and balance zSlurred speech zSwallowing and/or eating difficulty zUncontrolled continual muscular contractions zWalking difficulty, stumbling zHostility/irritability Inability to take pleasure in life zLack of energy zperson with Huntington's also may exhibit psychotic behavior: zDelusion zHalluciations zInappropriate behavior (e.g., unprovoked aggression) zParanoia
Alzheimer Syndrome zAutosomal Dominant zFound on Chromosome 1, or 10, or 14, or 19, or 21 zAPO4, is a cholesterol- carrying protein linked to development a protein that forms plaque in the brain
Brain Loss Alzheimers Disease -3D animation You Tube (1 min) Inside the Brain: Unraveling the Mystery of Alzheimer's Disease [HQ] (4:22) Alzheimers Disease -3D animation You Tube Inside the Brain: Unraveling the Mystery of Alzheimer's Disease [HQ]
Early or mild stage: What is Alzheimer's? YouTube (3:15) What is Alzheimer's? YouTube 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 zautosomal dominant disorder z chromosome 15 z(will be in movie)
Marfan’s: taller, pigeon chest Spidery fingers, enlargement of aorta
Marfan Syndrome Marfan Syndrome You Tube (2:45) Marfan Syndrome You Tube za connective tissue disorder, zAffects skeleton, lungs, eyes, heart and blood vessels. zunusually long limbs zaffected Abraham Lincoln.
“bleeder’s disease” zX H X h = female carrier zX h X h = female hemo zHemophilia Video (from WHF)Hemophilia Video zYoung Boy hemophilia treatment You TubeYoung Boy hemophilia treatment You Tube zX H Y = normal male zX h Y = hemo male
Color Blindness zinability to perceive differences between some of the colors that others can distinguish. zMore common in males zSex-linked (red and Green) on X chromosome recessive z
Color Blindness z3 seconds to determine number Ishihara Test for Color Blindness
zThe individual with normal color vision will see a 5 revealed in the dot pattern. An individual with Red/Green (the most common) color blindness will see a 2 revealed in the dots.
Color blindness=can’t tell certain colors zRecessive on X chromosome = c zX C X c = normal female (carrier) zX c Y = color-blind male
Triple-X Syndrome ztriplo-X ztrisomy X zXXX syndrome z47,XXX aneuploidy There is usually no distinguishable difference to the naked eye between women with triple X and the rest of the female population.
Triple-X Syndrome zAlthough females with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. zMost females with triple X syndrome have normal sexual development and are able to conceive children.
Nondisjunction zChromosomes to segregate unevenly during meiosis zMistakes in MeiosisMistakes in Meiosis
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 – X linked zOnly females have 3 colors (orange, black, white) zLooks like “Pepper”