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University of Toronto Scarborough
Biological Sciences
Stephen Reid

Chapter 14: Genetics, Altered Immune Responses, and Transplantation GENETICS  Genetic disorders can be categorized into autosomal dominant, autosomal recessive, or sex- linked (X-linked) recessive disorders. o Autosomal dominant disorders are caused by a mutation of a single gene pair (heterozygous) on a chromosome. o Autosomal recessive disorders are caused by a mutation in two gene pairs (homozygous) on a chromosome. o X-linked recessive disorders are caused by a mutation on the X chromosome.  The different types of genetic testing include direct testing, linkage testing, biochemical testing, and karyotyping.  Gene therapy is an experimental technique used to replace or repair defective or missing genes with normal genes.  Stem cells are cells in the body that have the ability to differentiate into other cells. Stem cells can be divided into two types: embryonic and adult. ALTERED IMMUNE RESPONSES  Immunity is a state of responsiveness to foreign substances such as microorganisms and tumor proteins. Immune responses serve three functions: defense, homeostasis, and surveillance.  Immunity is classified as innate (natural) or acquired. Acquired immunity is the development of immunity, either active or passive.  The immune response involves complex interactions of T cells, B cells, monocytes, and neutrophils. These interactions depend on cytokines (soluble factors secreted by WBCs and a variety of other cells in the body) that act as messengers between the cell types.  Humoral immunity consists of antibody-mediated immunity. In contrast, immune responses initiated through specific antigen recognition by T cells are termed cell-mediated immunity. Both humoral and cell-mediated immunity are needed to remain healthy.  Immunocompetence exists when the body’s immune system can identify and inactivate or destroy foreign substances.  A hypersensitivity reaction occurs when the immune response is overreactive against foreign antigens or fails to maintain self-tolerance. This results in tissue damage.  Although an alteration of the immune system may be manifested in many ways, allergies or type I hypersensitivity reactions are seen most frequently. o Common allergic reactions include anaphylaxis and atopic reactions. o Allergic rhinitis, atopic dermatitis, urticaria, and angioedema are common type I hypersensitivity reactions.  After an allergic disorder is diagnosed, the therapeutic treatment is aimed at reducing exposure to the offending allergen, treating the symptoms, and if necessary, desensitizing the person through immunotherapy.  Anaphylactic reactions occur suddenly in hypersensitive patients after exposure to the offending allergen.
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