Human Genetics

Module code: BS3031

Module co-ordinators: Dr Nicola Royle and Dr Celia May

In this module you will study the organiation and dynamics of the human genome. We will look at the methods used in the analysis of human genetics and how research in human genetics can be used for the benefit of society. We will start by discussing the basis of genetic variation, how it arises and how it can be used to analyse the genome. We will also explore the variety and complexity of the relationships between mutations in or near genes and the manifestation of a disease phenotype.

Topics covered

  • Human genetic variation: protein and DNA-based marker systems, variation in gene number
  • Sequence organisation and structural components of chromosomes: distribution of AT- or GC-rich sequences, repetitive sequences, molecular biology of centromeres and telomeres
  • Tandem repeat DNA instability and disease: mechanisms of instability, how expansion of repeat DNA arrays in or near genes can lead to genetically inherited disease
  • Molecular biology and pathology of the sex chromosome: evolution and nature of the X and Y chromosomes, sex determination and sex reversal, roles of sex chromosomes in disease, X inactivation and dosage compensation in humans
  • Genetic and molecular basis of human inherited disease: molecular pathology of disease where biochemical defect is known (thalassaemias, collagenopathies),  mutational heterogeneity
  • Complex inheritance and human disease: susceptibility genes and common disorders (e.g. diabetes, hypertension), twin concordance and familial segregation, mapping strategies, single gene contribution (e.g. NIDDM and hypertension), disease association and candidate genes, affected sib-pair (non-parametric) methods, linkage analysis and complex models, comparative mapping
  • Genome-wide approaches in human genetic analysis: promise and pitfalls of genomics, historical review of technological advances including microarrays and their use in transcriptome analysis, CGH, arrayCGH, 'next-generation' sequencing
  • Immunogenetics: HLA, genetic causes of primary immunodeficiency
  • Genetic analysis in forensic and legal medicine: DNA typing systems, identification, kinship, statistical estimation
  • Stem cells and epigenetics: chromatin and histone modifications and role in gene regulation, relevance to stem cell biology
  • Genomic imprinting: epigenetic modification of chromosomal DNA, methylation, parent-of-origin effects and the relevance of chromosome imprinting to human disease
  • Genetics of ageing: theories of ageing, role of oxidative damage and telomeres, consideration of model organisms and premature ageing syndromes to study genetics of normal ageing
  • Cancer genetics: changes in cancer cells and cancer cell DNA, factors affecting human mutation frequency, development of cancer from multiple genetic mutations, oncogenes, tumour suppressor genes, colorectal cancer, breast cancer
  • Genetic counselling and ethics: ascertainment of at-risk individuals, clinical diagnosis, carrier status, estimation of recurrence risk, transmitting information, prenatal diagnosis, implications and burdens of genetic disease


  • 30 one-hour lectures
  • 4 one-hour tutorials


  • Exam (70%)
  • Poster (10%)
  • Essay (20%)