Biochemistry

Polymerase Chain Reaction overview RT-PCR overview Introduction – Polymerase Chain Reaction Polymerase Chain Reaction

Overview Mitochondrial inheritance pedigree Introduction Mitochondria are organelles found in most eukaryotic cells that

Overview – Epigenetics X-inactivation  Imprinting Introduction Epigenetics refers to the study of changes in

Rough Endoplasmic Reticulum (RER)  Structure  composed of a lipid membrane with membrane bound ribosomes

Silent  Exchange of one base for another results in same amino acid often an alteration

Overview  Structure   rich in proline, lysine, glycine unlike collagen, can exist in nonglycosylated forms fibrillin

Overview De novo nucleotide synthesis is the biochemical pathway through which cells synthesize new

Overview  Structure cloverleaf structure 3′ aminoacyl end = CCA    bound covalently to amino acid

Overview Sodium/glucose cotransporter (SGLT) function transport glucose actively across lumen against concentration gradient energy provided

Disease Nucleotide Repeat Gene affected Chromosome Fragile X syndrome CGG  FMR1 Sex X chromosome

Overview  Purine salvage pathway see figure clinical importance adenosine deaminase (ADA) deficiency  defective purine

Overview DNA replication is the process by which a cell duplicates its DNA before