biochemical genetics

Biochemical genetics is the study of how genes, which are made of nucleic acids and located in chromosomes, influence the chemical processes within cells. These genes direct the synthesis of RNA and proteins, including enzymes that catalyze biochemical reactions.12

The "one gene-one enzyme" principle, proposed by Beadle and Tatum, suggests that a single gene is responsible for producing a single enzyme. When a gene mutates, it can lead to a defective enzyme with reduced or absent function, causing inherited metabolic diseases, also known as "inborn errors of metabolism". Examples of such diseases include phenylketonuria (PKU) and sickle cell anemia, which result from specific genetic defects affecting enzyme activity. Biochemical techniques, such as chromatography and electrophoresis, are used to analyze DNA, RNA, and proteins to understand gene activities and inherited differences.3456