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Biology gd

genetic disorders

QuestionAnswer
Tay-Sachs gene mutation, chromosome 15, Hex A gene, fat builds up in the brain cells, eventually killing it
Cri-D-Chat means Cat like cries, chromosome 5, structural changes
Albinism chromosome 11 on trysolinase enzyme, without it melonene(skin pigment is not created)
SIckle cell blood cells for a sickle shape, chromosome 11, can cause a stroke, or prevent oxygen from geting to the liver or other organs, caused by the hemoglobin by it making H-s in stead of H-E
PKU makes phenoalinine that wont transform into tyrosine, to much phenoalinine is toxic, can helped by a low protein diet, chromosome 12
Cystic Fibrosis CTFR enzyme is suppose to transport things across the cell membrane, wont work, so its a transport problem, makes mucus build up
Huntingtons Dominant, casued by hntington protiene, attacks, brain cells and other nerve cells directly, late onset, thus breaks brain cells down
Achdrophlasia(Dwarfism) caused by FGFR3 enzyme, it converts the cartilage into bone too quickly, thus making the bone no being able to grow
Hemophilia clotting factor disfunction, blood wont clot
Duchenne muscular Dystrophy casued by dytrophi n protein, causes muscle tissue to break down
Color blindness the protein is a reseptor in the eye and depending on the type of color blindness, depends determines what receptor is malfunctioned
Turnner Syndrom monosomy x, ox, in females, affects estrogen level
Trisomy X XXX, in females, sometimes no symptoms are found in the female
Klinefelters syndrom trisomy, xxy in males, over developed female parts
Down Syndrome Trisomy 21, in chromosome 21, sant eyes, early dementia, skeletal problems
Created by: Rassmann 2
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