Department of Physiological Sciences, Institute of Veterinary Medicine, Warsaw University of Life Sciences, 02-776 Warsaw, Poland.
Polish Federation of Cattle Breeders and Dairy Farmers, 00-515 Warsaw, Poland.
Genes (Basel). 2024 Aug 10;15(8):1052. doi: 10.3390/genes15081052.
Genetic disorders arise from alterations in the hereditary information encoded in DNA, leading to potential detrimental effects on the well-being and vitality of organisms. Within the bovine population, genetic conditions inherited in an autosomal recessive manner are frequently associated with particular breeds. In recent years, several recessive haplotypes and a few causative mutations have been discovered in Holstein cattle: CDH (Holstein cholesterol deficiency), haplotypes with a homozygous deficiency in Holstein (HH1, HH3, HH4, HH5, HH6 and HH7), BLAD (bovine leukocyte adhesion deficiency) and DUMPS (deficiency of uridine monophosphate synthase). All of these diseases are inherited in an autosomal recessive manner. From a breeding perspective, recessive mutations specifically exhibit considerable detrimental effects and are a significant problem for breeders, exposing them to economic losses. Individual mutations can cause embryo death at any stage of pregnancy. Only genetic research and conscious selection of animals for mating will lead to a reduction in the number of carriers and elimination of mutations from the population.
遗传疾病是由 DNA 中编码的遗传信息的改变引起的，可能对生物体的健康和活力产生潜在的不利影响。在牛群中，常染色体隐性遗传的遗传状况与特定品种有关。近年来，已在荷斯坦奶牛中发现了几种隐性单倍型和一些致病突变：CDH（荷斯坦胆固醇缺乏症）、荷斯坦纯合子缺乏的单倍型（HH1、HH3、HH4、HH5、HH6 和 HH7）、BLAD（牛白细胞黏附缺陷）和 DUMPS（尿苷一磷酸合酶缺乏）。所有这些疾病都是常染色体隐性遗传。从繁殖的角度来看，隐性突变特别是具有相当大的不利影响，是饲养者的一个重大问题，使他们面临经济损失。单个突变可以导致妊娠任何阶段的胚胎死亡。只有通过基因研究和有意识地选择动物进行交配，才能减少携带者的数量，并从种群中消除突变。
