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Genetic Conditions

ESJ

DisorderType of mutat./affected prot.Who it Affectssymptoms/main charachteristicquality of life/ expectancy
Cystic Fibrosis -autosomal recessive chromosome 7 - transmembrane protein -Caucasians -overproduction of mucus so it builds up in lungs and digestive tract -salty skin -breathing issues -percussion therapy -VEST therapy -up to 40 yrs old
Albinism -defect in the P gene all -absence of color in hair, or skin -patchy skine -normal -but cant tolerate the sun
Down's Syndrome -47 chromosomes instead of 46 all -decreased muscle tone -small ears -small mouth -flattened nose -increased risk of luekemia or heart problems
ALD -boys only -Seizures -up until 13, rarely beyond -
Prader-Willi -Mother's chromosome 15 -all -small -non-developed gentitals -regular -right education
Turner's Syndrome -Chromosomal XO -Females -Small stature, 4'8 average height -webbed neck -infertile -normal life span -need hormone replacement therapy -able to have children through invitro with egg donor
KlineFelter's Syndrome -47 or XXY -only males -feminine traits -normal
Progeria -autosomal -both dominant and recessive -affects Lemin-A gene -all races -both genders -rapid aging in children -avg death = 13 -die from heart problems/ stroke/ old age
Tay Sachs -lacks hexosaminidase A -detectiv gene on chromosome 15 -jewish -deafness -dementia -seizures - loss of motorskills -die by 4 or 5
Polydactyly GL13 mutation both genders, all races extra finger and/or toes -normal if handled properly with surgery
Hemophilia Sex linked recessive. -blood clotting protein -congulation factor mostly males, all races bleeding disorder, no blood clotting -internal bleeding and bruising problems -low exposure to injury -infusions of clotting factor -normal expectancy if cautious
Sickle Cell Anemia - gene mutation where cells cannot carry oxygen because of crescent shape -hemoglobin affected -west and central Africa -African Americans -hispanics -fatigue -delayed growth -ulcers - live up to fifty and beyond
Created by: garrettl
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