人类基因组突变热点区的简并度特异基因

突变热点区域是基因突变相对集中的区域，在生物的遗传和变异中有特殊的地位.针对特殊条件下发生突变形成的突变热点区域进行了相关研究.而人类基因组序列的测定和人类基因框架图的绘制，为在全基因组范围内进行突变热点研究提供了条件.分析了人类基因组中2 831个基因突变热点区域上简并度的性质，对突变热点区集中在高简并度区或者低简并度区的基因生物学功能进行了分析和分类.研究的焦点集中在某类功能的基因简并度特性一致的情况上.对搜集到的基因简并度特性利用聚类计算进行分析，找到了一些特殊的功能类，属于其中某类功能的基因能够通过聚类分析聚合到一起，从而说明简并度特性也是相近的，这为从基因的简并度特性预测表达物的功能提供了线索.

Analysis of Degeneracy Special Gene in Human Genome

This is a research of the relationship between the characteristics of local degeneracy on mutational hotspots regains on genes of human genome. There includes the introduction of related research background and a draft of the calculation methods of local degeneracy and clustering. SNP spots are regarded as the foundation to decide mutational hotspots. 2 831 genes of human genome are selected and analyzed by their characteristics of local degeneracy on hotspots regains. Furthermore, genes whose hotspots are aggregated in relatively high local degeneracy regains and their low counterpart are analyzed and classified by their biological function. The selected genes are clustered by their parameters of local degeneracy. Some function classes whose selected genes are clustered together through clustering are found. For certain function classes, all selected genes of each class have similar parameters of local degeneracy. It appears that the local degeneracy of amino acid residues that contain SNPs of certain gene depends on the function of the proteins these genes produce. The fundamental reason for this phenomenon may be that by their nature, SNPs connect local degeneracy in mutational hotspot regions and biological function. Depending on whether they are degenerate SNPs affect the functions of proteins, and each no degenerate SNP may be a potential source of phenotypic diversity. Human genes appear to select high local degeneracy at the amino acid residues that contain SNPs. This may be the result of natural selection. This result shows that their trait of local degeneracy also like each other, which is a good clue to predict gene function by their local degeneracy.