National Engineering Laboratory for Animal Breeding, Key Laboratory of Animal Genetics, Breeding and Reproduction, Ministry of Agriculture and Rural Affairs, College of Animal Science and Technology, China Agricultural University, Beijing 100193, China.
National Engineering Laboratory for Animal Breeding, Key Laboratory of Animal Genetics, Breeding and Reproduction, Ministry of Agriculture and Rural Affairs, College of Animal Science and Technology, China Agricultural University, Beijing 100193, China.
J Dairy Sci. 2020 Jan;103(1):619-624. doi: 10.3168/jds.2019-16345. Epub 2019 Nov 6.
Specific DNA mutations underlying several genetic defects associated with embryo loss or reduced calf survivability have been identified in dairy cattle, and a convenient and cost-effective platform is required for their routine screening. We developed Kompetitive allele-specific PCR (KASP) assays for discrimination of the wild-type alleles from the associated defective alleles at each of 8 common genetic defects in Holstein cattle, involving 5 SNP [HH1, HH3, HH4, bovine leukocyte adhesion deficiency (BLAD), and complex vertebral malformation (CVM)] and 3 insertion or deletion mutations [HH5, haplotype for cholesterol deficiency (HCD), and brachyspina (BS)]. A total of 390 cows from a Chinese Holstein herd were genotyped and the carriers identified at 7 of these 8 loci (except HH4), with the highest carrier frequencies found for CVM (10.5%) and HH1 (10.0%), followed by HH3 (2.6%), BS (2.1%), HCD (1.3%), HH5 (0.8%), and BLAD (0.5%). Surprisingly, 102 cows (26.2%) carried at least 1 of the 7 defective alleles. Our results demonstrate that these KASP assays are simple, rapid, and reliable for the detection of multiple genetic defects. The high carrier frequency of these genetic defects indicates an urgent need for routine molecular testing to eliminate the deleterious alleles from Chinese Holstein cattle.
已经在奶牛中鉴定出与胚胎丢失或降低小牛存活率相关的几种遗传缺陷背后的特定 DNA 突变，并且需要一种方便且具有成本效益的平台对其进行常规筛查。我们开发了 Kompetitive allele-specific PCR (KASP) 检测，用于区分荷斯坦奶牛 8 种常见遗传缺陷中每个缺陷相关的野生型等位基因和缺陷型等位基因，涉及 5 个 SNP[HH1、HH3、HH4、牛白细胞黏附缺陷症（BLAD）和复杂脊柱畸形症（CVM）]和 3 个插入或缺失突变[HH5、胆固醇缺乏症（HCD）的单倍型和短脊柱（BS）]。对来自中国荷斯坦牛群的 390 头奶牛进行了基因分型，并在其中 7 个基因座（除 HH4 外）鉴定出这些缺陷型等位基因的携带者，其中 CVM（10.5%）和 HH1（10.0%）的携带频率最高，其次是 HH3（2.6%）、BS（2.1%）、HCD（1.3%）、HH5（0.8%）和 BLAD（0.5%）。令人惊讶的是，102 头奶牛（26.2%）携带至少 1 种 7 种缺陷型等位基因。我们的结果表明，这些 KASP 检测简单、快速且可靠，可用于检测多种遗传缺陷。这些遗传缺陷的高携带频率表明迫切需要进行常规分子检测，以从中国荷斯坦牛群中消除有害等位基因。
