人类基因序列二维可视化分析

Two-Dimensional Visualization Analysis of Homo Sapiens Gene Sequences

摘要: 染色体是遗传信息载体，正常人的体细胞染色体数目为23对，并有一定的形态和结构。人类从猿到人的长期进化过程中丢失了数万个基因，研究表明，基因中缺失的部分能够反映人类在进化史中的选择，科学家认为DNA的丢失和复制现象可能会是重要的进化动力，研究这些基因变化具有重要意义。人类Y染色体缺失数量较为明显，数百万年前，Y染色体上的基因还有大约1500个之多，而现在却总共只剩下40个。基因缺失属于基因突变的一种，基因突变可以发生在发育的任何时期，在人类中因基因突变引发的疾病有多种，而生物性状的表达由基因控制，从基因序列表达到蛋白质过程中涉及相关的序列有mRNA，ncRNA、cDNA、CDS。本文致力于探索这几种序列之间的关系，以可视化形式将这些基因序列进行可视化。在本文中使用变值概率统计图示表示方法对人类较为特殊的2号染色体、Y染色体、mRNA、CDS、cDNA和ncRNA序列进行分段概率测量，映射成多个2D概率统计图，从而对不同的基因序列特征分布进行比较分析。

Abstract: Chromosomes are the carriers of genetic information. The number of somatic chromosomes in normal human is 23 pairs, and they have certain morphology and structure. Human beings have lost tens of thousands of genes in the long-term evolution process from apes to humans. Studies have shown that the missing parts of genes can reflect human selection in the evolutionary history. Scientists believe that the loss and replication of DNA may be an important evolutionary motive force. It is of great significance to study these gene changes. The number of Y chromosome deletions in humans is obvious. Millions of years ago, there were about 1500 genes on Y chromosome, but now there are only 40. Gene deletion is a kind of gene mutation. Gene mutation can occur at any stage of development. There are many diseases caused by gene mutation in human. Gene controls the expression of biological traits. Gene sequence from expression to protein is related to the sequence of RNA, ncRNA, cDNA, CDS. This paper is devoted to exploring the relationship between these sequences and visualizing these gene sequences in a visual form. In this paper, the variable probability statistical graphical representation method is used to measure the fragmentation probability of the special sequences of chromosome 2, Y, mRNA, CDS, cDNA and ncRNA in Homo sapiens and map them into several 2D probability statistical maps, so as to compare and analyze the distribution of different gene sequences.