SNPs DISTRIBUTION IN GENES

ABSTRACT

One of prior interests in human genetics is to get a comprehensive view of common polymorphism in the whole human genome, specially those that cause or are related with diseases. One of this forms of genetic variation are single-nucleotide polymorphisms (SNPs). In order to process enormous amounts of data, bioinformatics becomes essential. We have developed a program that maps the position of each individual SNP in different genomic features (meaning intron, exon or splicing sites). It is our supossition that those SNPs located in splicing sites (call them 'Hot Points') are crucial to understand some susceptibility to determinated illnesses. Until nowadays only mutations directly causing disease are widespread studied, instead of this we suggest a new method to find a characteristic variation type (the SNPs, moreover Hot Points) that can be responsible of differential susceptibility to a determinated disease between individuals.

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