人preproEGF的mRNA／cDNA序列中SNPs及生物信息学分布探究

目的探明单核苷酸多态（SNPs）在人表皮生长因子前体蛋白（prepr0EGF）mRNA／cDNA序列中的分布状况。方法凭借美国生物信息中心（NCBI）平台和单核苷酸多态资料库（dbSNP）检索、分析、标注和图解相关SNPs在人preproEGF多肽mRNA／eDNA序列中的分布位点和生物信息学特征。结果分布在人肾源和其他组织源preproEGF多肽mRNA／cDNA序列中的SNPs总计有106个，其中84个同位SNPs大多数以外显子6～8、11～12、16～19和22。23为间隔并集中归位于第1～5、10、13～15、20～21、24外显子序列中，另外的22个非同位SNPs大多数以密集丛簇为特征而各自分布在两类序列3’端非编码序列中，但个别例外则单独归位于肾源类序列的第9外显子中。结论SNPs在人两类preproEGF多肽mRNA／eDNA序列中的生物信息学分布、特征和图示对于SNP与疾病或性状的相关性研究及课题设计颇具参考价值。

Bioinformatics distribution of single nucleotide polymorphisms in mRNA/ cDNA of human epidermal growth factor precursor

Objective To ascertain the distribution of single nucleotide polymorphisms （SNPs） in the mRNA/cDNA of human epidermal growth factor precursor （preproEGF）. Methods By the web-based bioinformatics platform for NCBI tools, the dbSNP was searched and analyzed for SNPs relative to human preproEGF mRNMeDNA. These SNPs were then made the annotation and the diagram for their position and distribution in mRNMcDNA sequence. Results A total of 106 SNPs, of which 84 were considered the locus-same and 22 were considered the locus-different, were distributed in two mRNA/cDNA sequences with coding regions for preproEGFs from human kidney and other organic tissues. The majority of locus-same SNPs were clustered and assigned to exon 1-5,10,13-15, 20-21, 24 individually, which were spaced by exon 6-8, 11-12, 16-19, 22-23 apart in preproEGF-coding regions of two mRNA/eDNA sequences. Most of locus-different SNPs were clustered and distributed in three prime non-coding regions of two mRNA/cDNA sequences respectively. However, a rather unique locus-different SNP was located in exon 9 of preproEGF mRNA/eDNA from hu- man kidney. Conclusion The bioinformaties distribution and characterization that the illustration exhibits of SNPs in human preproEGF mRNA/eDNA sequences are useful to help the research design and the study in human disease as- sociated with preproEGF.