{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T16:47:00Z","timestamp":1792687620237,"version":"4.5.0"},"reference-count":62,"publisher":"MDPI AG","issue":"22","license":[{"start":{"date-parts":[[2024,11,6]],"date-time":"2024-11-06T00:00:00Z","timestamp":1730851200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Science and Higher Education","award":["DWD\/5\/0179\/2021"],"award-info":[{"award-number":["DWD\/5\/0179\/2021"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Animals"],"abstract":"<jats:p>Genetic disorders are caused by a hereditary change in the structure of DNA that may hurt the health and life of animals. Several recessive haplotypes and a few causative mutations are known in Holstein Friesian cattle: CDH (Holstein cholesterol deficiency), haplotypes with a homozygous deficiency in Holstein (HH1, HH3, HH4, HH5, HH6, HH7), BLAD (bovine leukocyte adhesion deficiency), DUMPS (deficiency of uridine monophosphate synthase), FXI (factor XI deficiency), HHM (mule foot, syndactyly), and BC (citrullinaemia). From a breeding point of view, these genetic diseases have highly negative effects and are a significant problem for breeders, exposing them to economic losses and hurting animal welfare. This study aimed to characterize the Polish population of Holstein Friesian dairy cattle, considering the carrier status of twelve selected genetic defects. This study was based on genotype data collected from 78,884 cows and 691 bulls of the Holstein Friesian variety. The studies were performed using Illumina Infinium microarrays. Among both bulls and cows, the highest numbers of carriers were detected for HH5 (appropriately 6.7% and 5.4%). The lowest numbers of carriers were detected for DUMPS, factor XI, and HHM. The study revealed one calf suffering from cholesterol deficiency.<\/jats:p>","DOI":"10.3390\/ani14223170","type":"journal-article","created":{"date-parts":[[2024,11,6]],"date-time":"2024-11-06T04:03:24Z","timestamp":1730865804000},"page":"3170","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Distribution of Recessive Genetic Defect Carriers in Holstein Friesian Cattle: A Polish Perspective"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4924-4690","authenticated-orcid":false,"given":"Marta","family":"Gozdek","sequence":"first","affiliation":[{"name":"Department of Physiological Sciences, Institute of Veterinary Medicine, Warsaw University of Life Sciences, 02-776 Warsaw, Poland"},{"name":"Polish Federation of Cattle Breeders and Dairy Farmers, 00-515 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian","family":"Mucha","sequence":"additional","affiliation":[{"name":"Polish Federation of Cattle Breeders and Dairy Farmers, 00-515 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8511-5004","authenticated-orcid":false,"given":"Adam","family":"Prostek","sequence":"additional","affiliation":[{"name":"Department of Physiological Sciences, Institute of Veterinary Medicine, Warsaw University of Life Sciences, 02-776 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3065-4075","authenticated-orcid":false,"given":"Dariusz","family":"Kamola","sequence":"additional","affiliation":[{"name":"The Kielanowski Institute of Animal Physiology and Nutrition, Polish Academy of Sciences, 05-110 Jab\u0142onna, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9175-7110","authenticated-orcid":false,"given":"Tomasz","family":"Sadkowski","sequence":"additional","affiliation":[{"name":"Department of Physiological Sciences, Institute of Veterinary Medicine, Warsaw University of Life Sciences, 02-776 Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,11,6]]},"reference":[{"key":"ref_1","first-page":"123","article-title":"Wybrane zaburzenia genetyczne u zwierz\u0105t gospodarskich","volume":"3","author":"Surdyka","year":"2015","journal-title":"Wiadomo\u015bci Zootech."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"7274","DOI":"10.3168\/jds.2015-10777","article-title":"Phenotypic and genetic effects of recessive haplotypes on yield, longevity, and fertility","volume":"99","author":"Cole","year":"2016","journal-title":"J. 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