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Phenotype

visible end product of a chain of events that starts with the gene, the mRNA, and the protein product

Sickle Cell Anemia

caused by substitution of a single amino acid in beta globin

Enzymes

convert substrates into products by catalyzing chemical reactions

Metabolism

the sum of all biochemical reactions by which cells convert and utilize energy

Substrate

starting point for a biochemical reaction

Inborn Error of Metabolism

concept that many genetic traits result from inherited alterations in biochemical pathways

Essential Amino Acids

amino acids we cannot synthesize in the body and must be supplied by diet - there are 9

Phenylketonuria

mutation that prevents the conversion of phenylalanine to tyrosine, often resulting in retardation, light skin/hair, and epileptic seizures

Monosaccharide

simplest carbohydrates, include fructose, glucose, and galactose

Carbohydrate

organic molecules that include sugars, starches, glycogens, and celluloses

Disaccharide

produced by chemically linking two monosaccharides, include sucrose, maltose, and lactose

Polysaccharide

long strings of many sugars linked together, including glycogen, starch, and cellulose

Galactosemia

autosomal recessive disorder caused by the inability to break down galactose. If left untreated, high levels accumulate, causing cataracts and mental retardation

Lactose Intolerance

adults are unable to digest the lactose in milk and other dairy products

Hemoglobin

iron-containing protein in red blood cells that transports oxygen from lungs to cells in the body

Globins

four protein molecules that makes up hemoglobin

Heme

organic molecule containing an iron atom for transport to cells in the body; same in all hemoglobins

Pseudogene

nonfunctional gene that is closely related to functional genes somewhere in the genome

Hemoglobin Variant

alpha and beta globins with variant amino acid sequences

Thalassemias

group of disorders characterized by imbalances in globin synthesis

Pharmacogenetics

branch of genetics concerned with the inheritance of differences in the response to drugs

Ecogenetics

branch of genetics that studies traits related to the response to environmental substances

PTC Tasting

first pharmacogenetic trait to be discovered; some people can taste chemicals in artificial sweeteners and some cannot

Alpha Thalassemia

genetic disorder associated with an imbalance in the ratio of alpha and beta globin caused by reduced or absent synthesis of alpha globin

Beta Thalassemia

genetic disorder associated with an imbalance in the ratio of alpha and beta globin caused by reduced or absent synthesis of beta globin

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