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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.