Mutations. Definition: changes to an organism’s DNA sequence. Genetic Disorders in Humans.
Definition: changes to an organism’s DNA sequence
Sickle-Cell Disease Hemophilia albinism Phenylketonuria Cystic Fibrosis Tay Sachs Disease colorblindnessAdrenoleukodystrophy (Lorenzo's Oil)Herditary DeafnessCoffin-Lowry SyndromeAchondroplasia (dwarfism)Fragile X Syndrome
Huntington's DiseaseMarfan Syndrome (Alton Giant)Trisomy 13 (Edward's Syndrome)Phenylketonuria (PKU)Rett SyndromeKlinefelter SyndromeTurner SyndromeRett SyndromeProgeria (premature aging)Xeroderma pigmentosumGaucher DiseasePrader-Willi SyndromeDuchenne Muscular Dystrophy
Can we cure these disorders?
diseases, nothing, or an advantage
1 base in the DNA is changed or substituted for another
1 base is added or removed so the reading frame is shifted over
DNA: CCT GAG GAG CCT GTG GAG
Pro –Glu– Glu Pro – Val – Glu
Sickle Cell Anemia
Abnormal hemoglobin that distorts red blood cells
January 3, 2012:
“The Pittsburgh Steelers safety and leading tackler won’t play in Sunday’s NFL playoff game at the Denver Broncos due to a blood condition that led to major medial complications the last time he played in the mile-high altitude of Denver.”
- From USAtoday.com