Selected Monogenic Genetic Diseases in Holstein Cattle—A Review
Abstract
:1. Introduction
2. DUMPS/HHD
3. BLAD/HHB
4. Haplotypes with Homozygous Deficiency in Holstein
4.1. HH1
4.2. HH3
4.3. HH4
4.4. HH5
4.5. HH6
4.6. HH7
5. CDH
6. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Haplotype Name | Name of Disorder | Gene | OMIA | Variant Description | ||
---|---|---|---|---|---|---|
Chr | Description | Coding DNA Change | ||||
DUMPS/HHD | Deficiency of uridine monophosphate synthase | UMPS | 000262-9913 | 1 | SNV (nonsense) | c.1213C > T |
BLAD/HHB | Bovine leukocyte adhesion deficiency | ITGB2 | 000595-9913 | 1 | SNV (missense) | c.383A > G |
HH1 | Holstein haplotype 1 | APAF1 | 000001-9913 | 5 | SNV (nonsense) | c.1702C > T |
HH3 | Holstein haplotype 3 | SMC2 | 001824-9913 | 8 | SNV (missense) | c.3404T > C |
HH4 | Holstein haplotype 4 | GART | 001826–9913 | 1 | SNV (missense) | c.869A > C |
HH5 | Holstein haplotype 5 | TFB1M | 001941-9913 | 9 | Gross deletion | 139 kb deletion |
HH6 | Holstein haplotype 6 | SDE2 | 002149-9913 | 16 | SNV (start-lost) | c.2T > C |
HH7 | Holstein haplotype 7 | CENPU | 001830-9913 | 27 | 5 bp deletion (splice site) | c.15123637_15123640delTTACT |
CDH | Holstein cholesterol deficiency | APOB | 001965-9913 | 11 | Large insertion (frameshift) | ERV insertion |
Defect | Carriers | Country | References |
---|---|---|---|
DUMPS | 0.0% | Poland, Iran, India, Russia, Turkey | [13,16,17,18,19] |
BLAD | 0.48% | China | [20] |
1.3%; 2.0% | Turkey | [19,21] | |
0.0% 4.0% | Mexico, Czech Republic, Russia, India India | [17,18,22,23,24] [25] | |
HH1 | 1.28% | USA | [26] |
3.42% | Italian | [27] | |
2.9% | Japan | [28] | |
4.44% 0.0% | Uruguay Brazil | [29] [30] | |
6.92% | China | [31] | |
HH3 | 2.64% | USA | [26] |
3.0% | France | [9] | |
5.1% | Germany | [32] | |
3.13% | Uruguay | [29] | |
3.0% | Kazakhstan | [33] | |
HH4 | 3.6% | France | [5] |
1.26% | Germany | [34] | |
0.37% | USA | [35] | |
HH5 | 4.30% | China | [31] |
5.5% | Germany | [32] | |
2.76% | USA | [35] | |
HH6 | 1.3% | France | [8] |
<1.0% | Russia | [36] | |
HH7 | 1.1% | France | [9] |
CDH | 8.7% | Germany | [32] |
14.6% | Canada | [37] | |
11.0% | Kazakhstan | [33] |
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Gozdek, M.; Mucha, S.; Prostek, A.; Sadkowski, T. Selected Monogenic Genetic Diseases in Holstein Cattle—A Review. Genes 2024, 15, 1052. https://doi.org/10.3390/genes15081052
Gozdek M, Mucha S, Prostek A, Sadkowski T. Selected Monogenic Genetic Diseases in Holstein Cattle—A Review. Genes. 2024; 15(8):1052. https://doi.org/10.3390/genes15081052
Chicago/Turabian StyleGozdek, Marta, Sebastian Mucha, Adam Prostek, and Tomasz Sadkowski. 2024. "Selected Monogenic Genetic Diseases in Holstein Cattle—A Review" Genes 15, no. 8: 1052. https://doi.org/10.3390/genes15081052