Feature Analysis Of The Base Mutation In Coding Region (BMCRs) Of Human Syndrome-related Genes

To date, many new research areas have not yet been developed, such as the unitary trend of varied kinds of syndrome, predicting and eradicating these syndromes by using some specific methods from the genetic level, and so on. In this research article, 226 genes and 2891 BMCRs of human syndrome had been examined. Cis-elements (ESEs and ESSs), RepeatMasker and MEME motifs of these mutations and the mutation features of the whole 2891 BMCRs had also been gathered and examined. And there were 168 kinds of syndrome which were induced by 226 pathogenic genes, the mutation features and induction factors were also been researched and discussed.These mainly results were as follow:1. The triplet codon mutations of human syndrome-related genes preferred C→T and G→A mutation patterns, and transitions were more preponderant than transversions.2. The mutations at the first and second positions of codons played an important role in syndromes.3. The length of exons had very significant influence on the BMCRs. Correlation analysis showed that the exon length has very strong influence (r = 0.22874, p < 0.0001) on single base mutation , suggesting that the higher base substitution mutations occurred preferentially in long exons.4. The GC content of exons had very significant influence on the BMCRs. The results of relevant research displayed that there was a significantly positive correlation (r=0.0670, P = 0.0333<0.05) between GC content of exons and mutation numbers.5. Both of the cis-element ESE and ESS had significant influence on the BMCRs. Highly significant correlation (r = 0.2005, p < 0.0001) also existed between the ESE number of exons and mutation number in ESE element, implying that BMCRs of human syndrome-related genes may prone to occur in the ESE elements, and base mutations in ESE elements have very important effect on the BMCRs in human syndrome-related genes.6. Both of the MEME motifs and repeatmasker had no significant influence on the BMCRs. The research results showed that there were only 45 BMCRs which have been induced by the mutation of both two elements above. Compare with whole 2891 BMCRs, the effect of two elements above had no significant influence on the BMCRs. 7. The BMCRs had partiality for occurring in more complex systems. The results showed that BMCRs are prone to occur in the systems of which both of structure and function are complex.8. The pathogenesis of varied human syndromes had no more differences. While the average GC-content were different in whole eight syndrome categories, their mutation features had no more differences.This is for the first time systematic analysis of mutation features and trend of human syndrome. All above results may provide very important clues for further understand ding the mechanism of human syndrome occurrence.