CONCLUSIONS
Three main conclusions have been deduced from this project:
- There are very few genes with high SNPs density in comparison with the great number of low SNPs density ones. Both classifications have been done in an analogous way, exceeding five times the mean value (high density) or five times lower than the mean (Low Density). Only ten high SNPs density genes were found during the analysis.
- While the global SNPs ratio between intron and exon regions is approximately one, the SNPs density ratio between the same regions is around 0.01. This means that even if we find more or less the same number of SNPs in coding and non-coding regions, the density of them is much higher in exons.
If we consider the SNPs density in the whole exonic regions, we found more than 7 SNPs/kb in coding regions. The difference with published results could be due to the consideration of untranslated regions in the calculation.
- Hot points, those SNPs in splicing sites, are interesting items to be studied due to its posible biological signification. The total number in the whole genome is 388, observing different distribution depending on the chromosome studied. It can be remarked that the single chromosome without hot points is Y chromosome maybe caused by evolutionary constrictions.
