Human Disorders Caused by Small Mutations Complete the following as a Post-Lab E

Question

Human Disorders Caused by Small Mutations Complete the following as a Post-Lab Exercise Phenylketonuria (PKU) Gene Affected: Phenylalanine Hydroxylate Mutation category: _____ Disease Symptoms (phenotype): _____ Sickle Cell Anemia Gene Affected: Beta Hemoglobin Mutation Category: _____ Disease Symptoms (phenotype): Marfan Syndrome Gene Affected: Fibrillin Mutation Category: _____ Disease Symptoms (phenotype): Progeria Gene Affected: Lamin Mutation Category: _____ Disease Symptoms (phenotype). _____ galactosemia Gene Affected: Galactose Metabolizing protein Mutation Category: _____ Disease Symptoms (phenotype). _____

Explanation / Answer

Phenylketonuria

Mutation type : Multiple mutation

Symptoms : Intellectual and psychiatric disorders, skin rashes, neurological disorders, behavioral problems

Sickle cell anaemia

Mutation type : Point mutation

Symptoms : Anaemia, fatigue, dactylitis, arthritis, frequent bacterial infection, delayed growth

Marfan syndrome

Mutation type : Point mutation

Symptoms : Disproportion in hand legs and fingers, heart murmurs, curved spine, arched palate teeth, breastbone protruding outward or inward

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