Introduction to genomic sequence databases and analysis of sequences related to the beta S globin gene polymorphism. (Practical activity in the Cybertory virtual laboratory)

A protocol to work on the «Cybertory» virtual laboratory at Biomodel.UAH.es Drepanocytic anaemia (or sickle cell anaemia) is originated by the mutation of a single nucleotide in the human beta globin gene. This produces a polymorphism in the population, defined by the presence of either the normal or the mutated allele in each one of the two homologous copies of chromosome 11. In the context of molecular study of this disease and its genetic diagnosis, we will examine the sequences deposited in genome databases corresponding to the beta globin gene and its polymorphic point. Aim: Gather information about polymorphism in the beta globin gene that produces haemoglobin S and leads to drepanocytosis. Become familiar with sequence databases, the differences between genomic DNA and cDNA, the concepts of intron and exon.