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15 terms

Ch. 10 terms

ch. 10 terms as defined in the book
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Alkaptonuria
A relatively benign autosomal recessive genetic disorder associated with the excretion of high levels of homogentisic acid.
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.
Ecogenetics
A branch of genetics that studies genetic traits related to the response to environmental substances.
Essential amino acids
Amino acids that cannot be synthesized in the body and must be supplied in the diet.
Galactosemia
A heritable trait associated with the inability to metabolize the sugar galactose. If it is left untreated, high levels of galactose-1-phosphate accumulate, causing cataracts and mental retardation.
Hemoglobin variants
Alpha and beta globins with variant amino acid sequences.
Inborn error of metabolism
The concept advanced by Archibald Garrod that many genetic traits result from alterations in biochemical pathways.
Metabolism
The sum of all biochemical reactions by which cells convert and utilize energy.
Pharmacogenetics
A branch of genetics concerned with the inheritance of differences in the response to drugs.
Phenylketonuria (PKU)
An autosomal recessive disorder of amino acid metabolism that results in mental retardation if untreated.
Product
The specific chemical compound that is the result of enzymatic action. In biochemical pathways, a compound can serve as the product of one reaction and the substrate for the next reaction.
Pseudogenes
Nonfunctional genes that are closely related (by DNA sequence) to functional genes present elsewhere in the genome.
Substrate
The specific chemical compound that is acted upon by an enzyme.
Thalassemias
Disorders associated with an imbalance in the production of alpha or beta globin.