SNP与Hbb基因多态性的关联性

目的从单核苷酸多态性（single nucleotide polymorphism，SNP）水平探索小鼠生化标记基因Hbb多态性的形成机理。方法从DNA、RNA和蛋白多肽3个方面分析研究Hbb基因的多态性。结果基因组DNA中有4个SNP位点与Hbbd/s多态性相关：分别为外显子1中的2个T（G），外显子2中的G（A）和外显子3中的A（G）；RNA水平有4个SNP位点与Hbbd/s多态性相关：分别对应为外显子1中的2个T（G），外显子2中的G（A）和外显子3中的A（G）；蛋白多肽水平第13、20和139位氨基酸残基，即Cys/Gly、Ser/Ala和Thr/Ala间的转换与Hbb/s多态性相关，分别对应于外显子1中的2个T（G）和外显子3中的A（G）。结论第13、20和139位氨基酸残基，即Cys/Gly、Ser/Ala和Thr/Ala间的转换可能是Hbbd/s多态性的形成原因。

Correlation of SNP and Polymorphism of Hbb Gene

Objective To study the mechanism of polymorphism of Hbb gene at single nucleotide polymorphism（SNP） level. Methods Hbb gene was analyzed in 3 aspects, i.e. DNA, RNA and protein polypeptides. Results For the genome DNA,four SNP loci,two T（G） of exon 1 ,G（A） of exon 2 and A（G） of exon 3,were detected correlating with Hbb^d/s haplotype. For the RNA,four SNP loci,corresponding to two T（G） of exon 1 ,G（A） of exon 2,and A（G） of exon 3,were found correlating with Hbb^d/s haplotype. For the protein polypeptide, three interchanges of Cys/Gly, Ser/Ala, Thr/Ala at position 13,20 and 139 were detected correlating with Hbb^d and Hbb^s haplotypes, which corresponded to two T（G） of exon 1 and A（G） of exon 3, respectively. Conclusion Three interchanges of Cys/Gly, Ser/Ala, Thr/Ala at position 13,20 and 139 might provide the basis for the two haplotypes,Hbb^d and Hbb^s.