牛基因组中一些重要基因的DNA突变通过改变基因的表达和蛋白质功能来影响机体对疾病的抗性或易感性。控制牛疾病的DNA变异主要分为单基因座及多基因座两类。导致疾病的单基因座类型亦称因果突变, 其遗传基础较简单, 突变一般位于基因编码区或非编码区, 多为单碱基或少数几个碱基的突变, 这些突变导致氨基酸的错义突变、翻译提前终止或部分外显子缺失等。相比而言, 多基因相关疾病的遗传基础较为复杂, 遗传-病原体-环境间的互作是导致这类复杂疾病的主要原因。文章综述了由单基因座和多基因座遗传变异所控制的牛主要疾病的研究和应用现状, 以及在牛育种及生产中为降低这些疾病的发生所采用的遗传控制策略。
Bovine genomic DNA mutations and their genetic effects on gene expression and protein function influence disease susceptibility and resistance of cattle. The genetic loci related to cattle diseases are mainly divided into two types: single-locus-disease genes and multigenic-disease loci. The single-locus-disease genes are called causal mutations; their genetic basis is simply and normally detected in the coding and non-coding regions inducing substitution of amino acid, premature termination of translation, and complete deletion of entire exon(s). In contrast, the genetic basis of disease related to multiple genes is more complex since susceptibility or resistance of these diseases is affected by the interactions among host, pathogen, and environment. This article reviewed current research and application of the major diseases of cattle con-trolled by single gene or polygenic genes. The genetic control strategies of effective identification and control of these dis-eases in bovine breeding and production were also analyzed.
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