摘要： 为了明确甘肃黑猪H-FABP基因的遗传特征，采用DNA池结合直接测序技术快速筛查甘肃黑猪H-FABP基因遗传多态性，并利用生物信息学方法预测其编码氨基酸的理化性质及蛋白功能。结果显示，甘肃黑猪H-FABP基因在扩增区域共发现4个突变位点，分别为C⁷³⁴T-Intron1、T¹⁵²C-Exon2、G³⁰A-Intron2、T¹²¹G-Intron2，各等位基因频率在突变前后存在明显差异；该基因编码区全长402 bp，共编码133个氨基酸残基，其中，编码区序列有1个T¹⁵²C-Exon2的错义突变，氨基酸由原来非极性的异亮氨酸（Ile）转变为极性的苏氨酸（Thr）；H-FABP编码蛋白是一种稳定的亲水性蛋白，二、三级结构均为混合型，β-折叠所占比例最高。蛋白质功能预测结果显示，甘肃黑猪H-FABP编码蛋白存在19个潜在磷酸化位点和1个N-糖基化位点，可能会影响H-FABP基因调控肌内脂肪含量的增加。同源性比较和系统发育树分析表明，甘肃黑猪与偶蹄目动物亲缘关系最近。研究结果可为甘肃黑猪肌内脂肪含量沉积的分子遗传标记提供理论基础，该基因的多态性筛选已成为家畜肉质性状改良的分子研究热点。

关键词: 甘肃黑猪, H-FABP基因, DNA池, 单核苷酸多态性, 生物信息学

Abstract: In order to identify the genetic characteristics of the H-FABP gene, DNA pooling and direct sequencing technique were used for rapid screening of H-FABP gene polymorphism, the physicochemical properties of the encoded amino acids and the protein structure and function were predicted by bioinformatics in Gansu black pig. The result showed that 4 mutation sites were found in the region of the H-FABP gene amplification in the Gansu black pig. C⁷³⁴T-Intron1, T¹⁵²C-Exon2, G³⁰A-Intron2, T¹²¹G-Intron2, respectively, it was shown that the allele frequencies were significant differences before and after mutation;the CDS region of H-FABP gene in Gansu black pig was 402 bp, encoding 133 amino residues, and T¹⁵²C were missense mutations, was found in CDS region. Amino acids were converted from threonine (Ile)to threonine (Thr). The H-FABP gene encoding protein of black pig was a stable hydrophilic protein, protein secondary structure and tertiary structure were mixed type, and the proportion of beta folding was the highest. The results of protein function prediction showed that there were 19 potential phosphorylation and 1 N-glycosylation sites, it might affect the increase of fat content in the H-FABP gene regulation muscle;Homology comparison and phylogenetic tree analysis showed that it had most similar genetic relationship between Artiodactyl and Gansu black pig. These provided a theoretical basis for the molecular genetic markers of the intramuscular fat content deposition in Gansu black pigs, the polymorphism screening of the H-FABP gene, it has become a hot spot of molecular research in the improvement of meat quality traits in domestic animals.

Key words: Gansu black pig, H-FABP gene, DNA pooling, Single nucleotide polymorphisms, Bioinformatics

中图分类号: 

• S828

• Q78