Distribution of Recessive Genetic Defects in Cattle Population of Urals

Modorov, M. V.; Martynov, Nikolai Alexandrovich; Шкуратова, И. А.; Zaitseva, Olga Sergeevna; Sokolova, O.V.; Ryaposova, M.V.

doi:10.1134/s102279542204010x

Cited by 3 publications

(1 citation statement)

References 30 publications

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“…The carrier frequencies of HH1, HH3 and HH4 were each 3.34% in Indian Holstein Friesian bulls (Kumar et al., 2020). HCD, FXID, CVM and BLAD were identified in the Ural pedigree cattle and the HH1–HH6 and HCD defects were detected in the stud bulls (Modorov et al., 2022).…”

Section: Locus Chromosome Gene Mutation and Type Of Varianta Mf‐arms‐...mentioning

confidence: 99%

Multiplex fluorescent amplification‐refractory mutation system PCR method for the detection of 10 genetic defects in Holstein cattle and its comparison with the KASP genotyping assay

Khan,

Dai,

et al. 2024

Animal Genetics

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The common deleterious genetic defects in Holstein cattle include haplotypes 1–6 (HH1–HH6), haplotypes for cholesterol deficiency (HCD), bovine leukocyte adhesion deficiency (BLAD), complex vertebral malformation (CVM) and brachyspina syndrome (BS). Recessive inheritance patterns of these genetic defects permit the carriers to function normally, but homozygous recessive genotypes cause embryo loss or neonatal death. Therefore, rapid detection of the carriers is essential to manage these genetic defects. This study was conducted to develop a single‐tube multiplex fluorescent amplification–refractory mutation system (mf‐ARMS) PCR method for efficient genotyping of these 10 genetic defects and to compare its efficiency with the kompetitive allele specific PCR (KASP) genotyping assay. The mf‐ARMS PCR method introduced 10 sets of tri‐primers optimized with additional mismatches in the 3′ end of wild and mutant‐specific primers, size differentiation between wild and mutant‐specific primers, fluorescent labeling of universal primers, adjustment of annealing temperatures and optimization of primer concentrations. The genotyping of 484 Holstein cows resulted in 16.12% carriers with at least one genetic defect, while no homozygous recessive genotype was detected. This study found carrier frequencies ranging from 0.0% (HH6) to 3.72% (HH3) for individual defects. The mf‐ARMS PCR method demonstrated improved detection, time and cost efficiency compared with the KASP method for these defects. Therefore, the application of mf‐ARMS PCR for genotyping Holstein cattle is anticipated to decrease the frequency of lethal alleles and limit the transmission of these genetic defects.

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Section: Locus Chromosome Gene Mutation and Type Of Varianta Mf‐arms‐...mentioning

confidence: 99%

Multiplex fluorescent amplification‐refractory mutation system PCR method for the detection of 10 genetic defects in Holstein cattle and its comparison with the KASP genotyping assay

Khan,

Dai,

et al. 2024

Animal Genetics

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The Use of KASP Technology to Study Associations of Single Nucleotide Polymorphisms in the GPAD4, CCL3, DGKG, PPARGC1A, STAT1, and TLR4 Genes with Milk Production in Cattle

Modorov

Kleshcheva²,

Osintseva³

et al. 2022

Russ J Genet

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Analysis of the frequency of distribution of CVM, BY BLAD in cattle populations

Martynov,

Zaitseva,

Sokolova

et al. 2024

Innov. prodovol. bezop.

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The modern selection of Holstein cattle is aimed at increasing milk production. However, using sires that are carriers of genetic anomalies contributes to more unwanted recessive alleles in cattle populations, leading to significant economic losses. Both phenotypic and genetic factors influence the performance of herd reproduction. The presence in animal populations of recessive alleles that determine genetic diseases increases the likelihood of the appearance of lethal homozygous genotypes in offspring. Such destructive genetic disorders are called LoF mutations that lead to the malfunction of the genes. The increase in the frequency of occurrence of LoF mutations in the population dictates the need to control their spread. This paper assessed the frequency of carriers of genetically determined diseases in the Ural cattle population. Data were obtained for three recessive disorders: BY - 1.16%, CVM - 1.8, BLAD - 3.79%. According to the literature review, the received data are close in value to the average compared with the results of other studies. This can be explained by the fact that the descendants of outstanding sires bred in the United States are used for breeding in the Urals. Thus, screening of sires and individuals included in pedigree stock, with the further selection of parental pairs, considering the results obtained, is a preferable conservative strategy to prevent the spread of recessive mutations.

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Distribution of Recessive Genetic Defects in Cattle Population of Urals

Cited by 3 publications

References 30 publications

Multiplex fluorescent amplification‐refractory mutation system PCR method for the detection of 10 genetic defects in Holstein cattle and its comparison with the KASP genotyping assay

Multiplex fluorescent amplification‐refractory mutation system PCR method for the detection of 10 genetic defects in Holstein cattle and its comparison with the KASP genotyping assay

The Use of KASP Technology to Study Associations of Single Nucleotide Polymorphisms in the GPAD4, CCL3, DGKG, PPARGC1A, STAT1, and TLR4 Genes with Milk Production in Cattle

Analysis of the frequency of distribution of CVM, BY BLAD in cattle populations

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