Cholesterol Deficiency – new genetic defect transmitted to Polish Holstein-Friesian cattle

Kamiński, Stanisław; Ruść, A.

doi:10.1515/pjvs-2016-0110

Cited by 11 publications

(8 citation statements)

References 6 publications

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“…Similar studies were carried out by other scientists, according to the results of genotyping of 27 servicing bulls of the Holstein-Friesian breed from Poland, and 9 heads were heterozygous carriers of the HCD haplotype (Kamiński & Ruść, 2016).…”

Section: Liter Ature Re Vie Wsupporting

confidence: 71%

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Development of alternative diagnosis of HH1, HH3, HH5 and HCD fertility haplotypes and subfertility syndrome in cattle

Shormanova,

Makhmutov,

Shormanova

et al. 2024

Reprod Domestic Animals

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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.

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Section: Liter Ature Re Vie Wsupporting

confidence: 71%

“…(2012). Meanwhile, in Poland, Kamiński and Ruść's study from 2016 found a higher prevalence of 33.3% among Polish bulls. In China, Zhang et al.…”

Section: Discussionmentioning

confidence: 93%

Development of alternative diagnosis of HH1, HH3, HH5 and HCD fertility haplotypes and subfertility syndrome in cattle

Shormanova,

Makhmutov,

Shormanova

et al. 2024

Reprod Domestic Animals

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“…In another study in Germany, Schütz et al [22] found 12.5 % of carriers among HF bulls born between 2012 and 2015. Kamiñski and Ruoeae [12] reported a much higher CD carrier frequency (33.33 %) in Polish HFc. In Chinese HFc, a carrier prevalence of 5.07 and 1.11 % was found for bulls and cows, respectively [16].…”

Section: Resultsmentioning

confidence: 93%

“…Although molecular methods such as Polymerase Chain Reaction (PCR) and its variants are currently applied to diagnose the CD-causing mutation [5,12,17,22], there are no published studies in Uruguay on the application of these techniques for the accurate and effective detection of these transposable elements. The design of molecular diagnostic strategies for this mutation would be important for this Country, in order to achieve immediate results regarding the control of this disease, since Briano-Rodriguez et al [2] reported a prevalence of CD carriers of 2.61 % in a population sample of HF calves using the GeneSeek Genomic Profiler -GGP -Bovine 50K genotyping panel.…”

Section: Introductionmentioning

confidence: 99%

Optimization of Real-Time PCR-melting for detection of the Cholesterol-deficiency mutation in Holstein Friesian cattle

et al. 2021

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The purpose of this study was to optimize a real-time PCR-melting analysis for reliable and economical detection of the 7.5 Kb mutant insert of the BoERVK bovine transposable element in exon 5 of the Apolipoprotein B (APOB) gene, which causes cholesterol deficiency — CD — (OMIA 001965-9913). This technique was also used to perform a preliminary molecular screening to detect this mutation in a DNA sample of Holstein Friesian cows (HFc) of six commercial dairy farms from different regions of Uruguay. By amplifying the 170 and 146 bp PCR products, two genotypes were clearly identified: homozygote (wild type wt/wt) and heterozygote (carrier of the CD mutation: MUT/wt). The homozygous wt/wt genotype was detected in the representative sample of 103 HFc. It is concluded that Real-Time PCR-melting analysis is a fast, easily interpretable, low cost, and highly accurate technique for detecting this mutation, which can be implemented in genetic selection programs to prevent the spread of the disease in HFc

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“…DNA was extracted by phenol method [18] from blood taken from tail vein. The primers used for PCR genotyping were 5´-GGTGACCATCCTCT-CTCTGC-3´ (the universal forward primer), 5´-AGTGGAACCCAGCTCCA-TTA-3´ (the revers primer for amplification of 249 bp fragment) to identify wild allele, and 5´-CACCTTCCGCTATTCGAGAG-3´ (the forward primer for 436 bp fragment) to identify mutant allele of APOB gene (indel-polymorphism) [19]. PCR protocol was as follows: 1 min at 95 С (initial denaturation); 30 s at 94 С, 30 s at 60 С, 30 s at 72 С (35 cycles); 10 min at 72 C (amplifier Thermal Cycler T1000, Bio-Rad Laboratories, Inc., USA).…”

Section: Introductionmentioning

confidence: 99%

Cholesterol Deficiency Mutation HCD Does Not Impact Milk Productivity and Blood Levels of Cholesterol and Triglycerides in Russian Holstein Black and White Cattle

Pozovnikova¹,

Lihacheva²,

Kudinov³

et al. 2018

s-h. biol.

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A b s t r a c tThe spread of lethal and semi-lethal mutations in cattle populations results in embryonic and postembryonic mortality of calves. The use of a limited number of sires creates the danger of wide spread of genetic abnormalities. Genetic markers identify carriers of a mutation in the absence of information about phenotypic manifestations of the disease. Cholesterol deficiency mutation (HCD, haplotype cholesterol deficiency), a recessive defect of Holstein cattle, is characterized by the death of calves in the first days or months of life. The extent of this genetic defect worldwide is currently very high, 6 to 17 %. In general, there is little information about the relationship of recessive mutations with dairy cattle productivity, and data on the effect of the HCD mutation, first described in 2015, on breeding traits are extremely limited. This paper is the first to report data on a genetic study of the APOB gene region on the BTA11 chromosome and milk production indices depending on the HCD status in a Russian dairy cow population. The obtained results indicate that in the studied population the HCD mutation does not reduce the pedigree value of animals in terms of milk production and milk quality (for fat and protein). The study was performed in a breeding farm of the Leningrad region in 2017. Random sample of Holstein black and white cattle include cows (n = 451) born in 2009-2015 and the calves (n = 7) with clinical signs of diarrhea and proven HCD carriers in pedigree (sires, sires of sires). Genotyping of animals was carried out by PCR using allele specific primers. The productivity of lactation 1 and 2 (milk, yield of milk fat and protein) was studied depending on the genotypes according to HCD. The ANOVA variance analysis and calculation of means were carried out with RStudio program on the basis of a single-effect model. Estimated breeding value of milk, fat and protein yields in kg was calculated using BLUP Animal Model. The concentration of triglycerides and cholesterol was determined with an automatic biochemical analyzer RX Daytona (Randox Laboratories, UK). According to the results of the study, 35 cows (7.76 %) of those tested are the HCD carriers. Among the calves, one calf was defined as a carrier and one heifer with homozygous HCD genotype for APOB gene had all symptoms of the disease. It is established that the HCD + cows are not inferior to their peers on milk productivity. The cows with the mutant allele of the APOB gene born in 2013 significantly exceeded healthy animals: during lactation 1 by 1219 kg (p  0.01) for milking, by 13.8 kg for milk fat yield, and by 19.9 kg for milk protein yield (p  0.05); during lactation 2 by 1392 kg (p  0.001) for milking, by 44 kg (p  0.05) for milk fat yield, and by 39.8 kg for milk protein yield (p  0.01). The average estimated breeding value (EBV) of HCD carriers is 6.8 % higher in milk yield, 8.1 % in fat and 4.8 % in protein compared to HCD  animals. Monitoring of progeny of HCD carriers using Illumina Bovine IBDv3 (50k) did not reveal...

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Cholesterol Deficiency – new genetic defect transmitted to Polish Holstein-Friesian cattle

Cited by 11 publications

References 6 publications

Development of alternative diagnosis of HH1, HH3, HH5 and HCD fertility haplotypes and subfertility syndrome in cattle

Development of alternative diagnosis of HH1, HH3, HH5 and HCD fertility haplotypes and subfertility syndrome in cattle

Optimization of Real-Time PCR-melting for detection of the Cholesterol-deficiency mutation in Holstein Friesian cattle

Cholesterol Deficiency Mutation HCD Does Not Impact Milk Productivity and Blood Levels of Cholesterol and Triglycerides in Russian Holstein Black and White Cattle

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