小鼠SNP与Car2、Gpi1基因多态性的关联性

目的研究单核苷酸多态性(single nucleotide polymorphism,SNP)与小鼠生化标记基因Car2、Gpi1多态性间的关联性。方法从DNA、cDNA和蛋白多肽3个方面分析研究Car2与Gpi1基因的多态性。结果 Car2基因DNA和cDNA中有3个SNP与Car2a/b多态性相关,分别为外显子2中的C(T)、G(C)和外显子7中的A(G);蛋白多肽中发现第38位Gln/His与Car2a/b多态性相关,对应于外显子2中的G(C)。Gpi1基因DNA中没有发现与Gpi1a/b多态性相关的SNP;cDNA水平有2个SNP与Gpi1a/b多态性相关,分别为外显子9中的T(C)和18中的A(G);蛋白多肽中发现第247位Phe/Leu与Gpi1a/b多态性相关,对应于外显子9中的T(C)。结论 Gln/His(38)、Phe/Leu(247)间的转换可能分别是近交系小鼠形成Car2a/b,Gpi1a/b多态性的原因。

Correlation of SNP and polymorphism of Car2 and Gpil genes in mice

Objective To study the correlation of single nucleotide polymorphism （SNP） and polymorphisms of Car2 and Gpil genes in mice. Methods Polymorphisms of Car2 and Gpil genes were analyzed based on the DNA, cDNA and protein polypeptides. Results Three SNPs were observed in the Car2 between the two haplotypes in the genome DNA and cDNA, i.e. C（T） , G（C） of exon 2 and A（G） of exon 7. An interchange of Gin/His at position 38 was detected in the protein polypeptide, corresponding to G（C） of exon 2. In the Gpil, two Gpil^a/b polymorphism-related SNPs were observed, the T（C） of exon 9 and A（G） of exon 18 between the two haplotypes in Gpil cDNA. Phe/Leu at position 247 was detected in the protein polypeptide, corresponding to T（C） of exon 9. Conclusions The interchanges of Gin/His at position 38 and Phe/Leu at position 247 may provide the basis for Car2^a/b and Gpil^a/b polymorphism haplotypes, respectively.