Abstract：
The increasing prevalence of hereditary anomalies in Holstein cattle populations presents a pressing issue, leading to concerns such as embryonic mortality and the birth of non-viable offspring. This study addresses the urgency of managing harmful genetic mutations in Holstein cattle by developing alternative diagnostic methods. The research aims to devise effective means to diagnose fertility haplotypes HH1, HH3, HH5, HCD and BY and subfertility syndrome in cattle. To achieve this goal, a range of molecular genetic techniques were employed, including Tetra-Primer ARMS-PCR methods, PCR-RFLP analysis and allele-specific PCR. These methods facilitated the identification of heterozygous carriers of various fertility haplotypes and subfertility syndrome in Holstein cows and servicing bulls. The study reveals the prevalence of these genetic defects within the Republic of Kazakhstan\'s cattle population. HH1, HH3, HH5, HCD and BY fertility haplotypes were found to have occurrence rates ranging from 1.4% to 16.6%, with subfertility syndrome detected in 4.5% of Simmental bulls. The practical significance of this research lies in its contribution to genetic monitoring and management strategies for Holstein cattle populations. By introducing affordable, rapid and accurate diagnostic methods, such as the T-ARMS-PCR, the study provides a valuable tool for controlling and mitigating the spread of harmful genetic mutations, ultimately improving the overall genetic health and productivity of Holstein cattle in the region. This research addresses a critical need in the cattle breeding industry and underscores the importance of genetic monitoring to ensure the long-term viability and sustainability of Holstein cattle populations.
摘要：
荷斯坦牛种群中遗传性异常的患病率越来越高，这是一个紧迫的问题，导致诸如胚胎死亡率和无生命后代的出生等问题。这项研究通过开发替代诊断方法来解决在荷斯坦牛中管理有害基因突变的紧迫性。该研究旨在设计有效的方法来诊断牛的生育力单倍型HH1，HH3，HH5，HCD和BY以及低生育力综合征。为了实现这一目标,采用了一系列分子遗传技术，包括四引物ARMS-PCR方法，PCR-RFLP分析和等位基因特异性PCR。这些方法有助于在荷斯坦奶牛和服务公牛中鉴定各种生育力单倍型和低生育力综合征的杂合携带者。该研究揭示了哈萨克斯坦共和国牛种群中这些遗传缺陷的患病率。发现HH1，HH3，HH5，HCD和BY生育能力单倍型的发生率为1.4％至16.6％，在4.5％的西门塔尔公牛中发现了低生育综合征。这项研究的实际意义在于它对荷斯坦牛种群的遗传监测和管理策略的贡献。通过引入负担得起的，快速准确的诊断方法，例如T-ARMS-PCR，这项研究为控制和减轻有害基因突变的传播提供了有价值的工具，最终改善该地区荷斯坦牛的整体遗传健康和生产力。这项研究解决了养牛业的关键需求，并强调了遗传监测的重要性，以确保荷斯坦牛种群的长期生存能力和可持续性。
