Module Identifier BS22820  
Academic Year 2000/2001  
Co-ordinator Dr Mustak Kaderbhai  
Semester Semester 2  
Other staff Professor Steven Kelly, Professor Neil Jones, Dr Glynis Giddings  
Course delivery Lecture   30 Hours  
Assessment Exam   3 Hours One 3-hour theory paper   100%  
  Resit assessment   3 Hours One 3-hour theory paper    

Aims and objectives
(i) To teach elements of genetics and medical Biochemistry in the context of human perspectives that are of interest and fascination to students (ii) To simplify comprehension of complex concepts in human disorders through interactive subject areas in biochemistry, immunology and genetics (iii) To establish awareness of how new and fast moving developments in related areas of genomics, bioinformatics, human genome project, human gene mapping and human gene therapy will enhance our understanding of the molecular basis of disorders in humans.

The module begins with an overview of the basis of heredity: the cell cycle, mitosis, meiosis, gametogenesis and fertilization in human development, including the phenomenon of imprinting. The human chromosome structure is discussed in relation to sex-linked genes, sex determination, variations, aberrations, mutations, linkage and crossing over. The human genome is then dealt at molecular level with emphasis on the evolution of the concept of the gene and its genetic definition.

A historical visit of Garrod's concept is followed by broad classification of inherited diseases including a detailed review of incidence across all areas of metabolism, nomenclature and most commonly inherited diseases. A general account of explanations for persistence of serious condition, including resistance to enterotoxic bacteria will be presented. Each of the following topics will deal with inherited disease in the remit of incidence, biochemical pathways and the abnormal gene(s) affected, clinical consequences, diagnosis and treatment. Galactosaemia and lactose metabolism; metal metabolism in Wilson's disease and Menkes disease; purines and pyrimidines synthesis in gout, Lesh-Nychan syndrome and hereditary xanthinuria with relevant emphasis in prenatal diagnosis and Ex vivo gene therapy; biogenesis of erythrocyte and metabolic capability reviewed in relation to haemoglobinopathies and evolution/organisation of globin gene superfamily; porphyrin biosynthesis and congenital erythropoetic pophyria; defects in lipid structures/synthesis in hypercholesterolemia, Tay Sachs and Gaucher diseases.

There will be coverage of molecular diagnosis, genetic screening and counseling, prenatal diagnosis and potential gene therapy of human diseases, with particular reference to cystic fibrosis.

The immunogenetics section will introduce the structure and diversity of antibody production via somatic mutations, HLA and tissue grafts and blood groups.

The human perspectives of defects in molecular signaling will be exemplified in the case of the G-protein switch and receptor coupled signal transduction. Examples will include colour blindness (spectral sensitivity variations), combined precautious puberty, pseudohypothyroidism, oncognes, and nephritic diabetes insipidus.

The final part of the module will discuss broader issues in DNA fingerprinting (paternity test, forensic application and sex identification of unborn), the future of human gene therapy approaches, the merits of human genome programme and ethics pertaining to human genetics and society.

Learning outcomes
On completion of this module the students will

Reading Lists
** Recommended Text
McConkey, E.H.. (1993) Human genetics - the molecular revolution. Jones & Bartlett.
Snustad, D.P., Simmons, M.J. & Jenkins, J.B.. (1997) Principles of genetics. John Wiley & Sons, Inc