Gene Therapy and Molecular Diagnosis

Vocabulary-style flashcards covering the concepts of gene therapy for ADA deficiency and modern molecular diagnostic techniques like PCR and ELISA from the lecture notes.

Gene therapy

A collection of methods that allows correction of a defect that has been diagnosed in a child/embryo by inserting genes into a person's cells and tissues to treat a disease.

Adenosine deaminase (ADA) deficiency

A disorder crucial for the immune system to function, caused by the deletion of the gene for the adenosine deaminase enzyme; it was the subject of the first clinical gene therapy in 1990.

Enzyme replacement therapy

A treatment for ADA deficiency in which functional ADA is given to the patient by injection, though it is not completely curative.

Retroviral vector

A tool used to introduce functional ADA cDNA into lymphocytes grown in culture during the first step of gene therapy for ADA deficiency.

Permanent cure for ADA deficiency

Introducing the gene isolated from marrow cells producing ADA into cells at early embryonic stages.

Molecular Diagnosis

Techniques such as Recombinant DNA technology, PCR, and ELISA that serve the purpose of early diagnosis and understanding pathophysiology.

Polymerase Chain Reaction (PCR)

A powerful technique used for early detection of pathogens (like HIV) or genetic mutations by the amplification of their nucleic acid.

Probe

A single stranded DNA or RNA, tagged with a radioactive molecule, allowed to hybridise to its complementary DNA in a clone of cells followed by detection using autoradiography.

ELISA (Enzyme Linked Immuno-sorbent Assay)

A diagnostic technique based on the principle of antigen-antibody interaction to detect infection by pathogens.

Antigens

Proteins or glycoproteins whose presence can be detected by ELISA to identify infection by a pathogen.