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25 terms

Chapter 10

STUDY
PLAY
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