牦牛DGAT1基因多态性及其与乳质性状关联分析

doi:10.3864/j.issn.0578-1752.2017.16.016

摘要/Abstract

摘要： 【目的】检测牦牛DGAT1基因多态性，评估基因突变对牦牛乳品质性状的影响，以期丰富牦牛重要经济性状的分子遗传研究基础。【方法】采用PCR-SSCP方法，检测甘南牦牛、天祝白牦牛、青海牦牛及野血牦牛DGAT1基因intron5-exon7和intron15-exon17区突变，分析基因突变对乳品质性状的影响。【结果】牦牛DGAT1基因intron5-exon7区发现c.562+32_c.562+33insCCGCCC的插入/缺失，等位基因M、基因型MM频率最高为优势等位基因和基因型，各类群牦牛PIC＜0.5属中度或低度多态；intron15-exon17区检测到c.1249-23C＞T和c.1336C＞T的突变，其中exon17发现的c.1336C＞T突变导致编码氨基酸p.Arg447Cys转变，等位基因A频率最高为优势等位基因，甘南牦牛、天祝白牦牛和青海牦牛中基因型AA为优势基因型，野血牦牛基因型AB为优势基因型，各类群牦牛0.25＜PIC＜0.5属中度多态；两区域3处突变位点构建出6种单倍型和11种单倍型组合，突变位点间存在连锁关系且接近于连锁平衡。关联分析表明，甘南牦牛intron5-exon7区基因型与乳质性状无显著相关；intron15-exon17区基因型BB个体乳品质性状最低，且乳蛋白率、乳脂率、总固体物质含量中显著低于其他基因型个体（P＜0.05）；携带等位基因A的个体乳蛋白率、乳脂率、总固体物质含量及无脂固体含量显著高于未携带者（P＜0.05），携带等位基因C的个体乳脂率也显著高于未携带者（P＜0.05），而携带等位基因B的个体乳脂率、总固体物质含量显著低于未携带者（P＜0.05）；单倍型组合H1H3个体的乳蛋白率、乳脂率、总固体物质含量和无脂固体物质含量均较高，且乳脂率及总固体物质含量显著高于其他单倍型组合（P＜0.05），而H2H2单倍型组合个体则较低，除乳糖率以外的其他乳品质性状均显著低于其他7种单倍型组合（P＜0.05）。【结论】牦牛DGAT1基因intron5-exon7和intron15-exon17区为低度和中度多态，intron6存在c.562+32_c.562+33insCCGCCC的插入/缺失，intron15和exon17分别检测到c.1249-23C＞T突变和c.1336C＞T的非同义突变。intron15-exon17区突变影响甘南牦牛乳品质性状，选留携带等位基因A的个体和淘汰携带等位基因B的个体、或选留H1H3单倍型组合及淘汰H2H2单倍型组合个体，均可显著改善后代群体的乳品质。

关键词: 牦牛, DGAT1基因, 多态性, 乳品质性状

Abstract: 【Objective】In this study, polymorphisms of yak DGAT1(diacylglycerol acyltransferase 1) gene were investigated and their effects on some milk quality traits were estimated so as to enrich the molecular genetic data for yak. 【Method】 Mutations in intron5-exon7 and intron15-exon17 of DGAT1 gene were checked by PCR-SSCP in 4 yak populations (Gannan yak, Tianzhu white yak, Qinghai yak and Wild-blood yak), and the effects of mutations on the milk quality traits were analyzed in Gannan yak.【Result】The c.562+32_c.562+33insCCGCCC was found in intron5-exon7 of yak DGAT1 gene ,and allele M and genotype MM were the dominant allele and genotype, and each yak population was moderately or low polymorphic (PIC＜0.5). The 2 SNPs (c.1249-23C＞T and c.1336C＞T) were found in intron15-exon17, and nucleotide substitution c.1336C＞T at exon 17 resulted in p.Arg450Cys change. Allele A was the dominant allele, the genotype AA in Gannan yak, Tianzhu white yak and Qinghai yak and AB in Wild-blood yak were the dominant genotype, respectively. Each yak population was moderately polymorphic (0.25＜PIC＜0.5). Total 6 haplotypes and 11 haplotype combinations were constituted by mutations in these two regions, and there was a linkage relationship between 3 mutations and closed to linkage equilibrium. The association analysis showed that the genotype in intron5-exon7 was not significantly correlated with the milk quality traits in Gannan yak. The milk quality traits of genotype BB were the lowest, and the milk protein rate, fat rate, total solids percentage were lower than those of other genetypes (P＜0.05), and individuals with possessing allele A had higher milk protein rate, fat rate, total solids percentage and non-fat solids percentage than those no-possessing (P＜0.05), and yaks with allele C also showed higher milk fat rate than those no-possessing (P＜0.05), but individuals with allele B showed lower milk fat rate and total solids percentage than those no-possessing (P＜0.05) in intron15-exon17 of DGAT1 gene in Gannan yak. Individuals with haplotype combination H1H3 had higher milk protein rate, fat rate, total solids percentage and non-fat solids percentage, and the milk fat rate and total solids percentage were higher than those of other haplotype combinations (P＜0.05), while those with haplotype combination H2H2 were lower, in addition to the lactose rate, the other traits were lower than other combinations (P＜0.05). 【Conclusion】The intron5-exon7 and intron15-exon17 of yak DGAT1 geneare low and moderately polymorphic, and the c.562+32_c.562+33insCCGCCC in intron6 and 2 SNPs (c.1249-23C＞T, c.1336C＞T) in intron15 and exon17 were detected, respectively. The mutations in intron15-exon17 of DGAT1 gene may affect some milk quality traits of Gannan yak, and selecting yak with allele A and haplotype H1H3, or eliminating ones with allele B and haplotype H2H2 can improve the milk quality of Gannan yak.

Key words: yak, DGAT1 gene, polymorphism, milk quality traits

高小莉，胡江，郭淑珍，石斌刚，谢建鹏，罗玉柱，王继卿，牟永娟. 牦牛DGAT1基因多态性及其与乳质性状关联分析[J]. 中国农业科学, 2017, 50(16): 3215-3225.

GAO XiaoLi, HU Jiang, GUO ShuZhen, SHI BinGang, XIE JianPeng, LUO YuZhu, WANG JiQing, MU YongJuan. Polymorphisms of DGAT1 Gene and Their Association with Milk Quality Traits in Yak[J]. Scientia Agricultura Sinica, 2017, 50(16): 3215-3225.

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