Bovine Leukocyte Adhesion Deficiency Research Articles

Distribution of Recessive Genetic Defect Carriers in Holstein Friesian Cattle: A Polish Perspective

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.

Selected Monogenic Genetic Diseases in Holstein Cattle-A Review.

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.

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 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.

Role of genetic introgression in introducing mutant alleles in Bos indicus cattle and prevalence of lethal genetic disorders in Bos taurus × Bos indicus and Bos indicus cattle in India.

Fertility is an important trait associated with reproductive performance and animal welfare concern. Lethal alleles affect fertility through early embryonic death, abortions, and stillbirth depending on the genetic expression of the allele. Holstein Friesian and Jersey are two major Bos taurus breeds used widely for increasing milk yield along with purebreds of Bos indicus breeds like Gir, Kankrej, Sahiwal, and Tharparkar. In the present study, prevalence of lethal mutants in crossbred Holstein Friesian (CBHF, n = 2435), crossbred Jersey (CBJY, n = 2874), Gir (n = 3288), Kankrej (n = 593), Sahiwal (n = 965), and Tharparkar (n = 18) were studied. Heterozygous carrier animals were identified for bovine leukocyte adhesion deficiency (BLAD), Citrullinemia, complex vertebral malformation (CVM), Brachyspina, Holstein Haplotype 1 (HH1), Holstein Haplotype 3 (HH3),Holstein Haplotype 4 (HH4) and Jersey Haplotype 1 (JH1). Breed purity analysis confirmed inheritance of Bos taurus genes contributing to the presence of lethal mutant alleles like BLAD, Citrullinemia, HH1, and JH1 in apparently phenotypic Bos indicus animals. Screening and elimination of heterozygous carrier bulls/cows is essential to control fertility loss associated with lethal alleles.

Genetic Load of Mutations Causing Inherited Diseases and Its Classification in Dairy Cattle Bred in the Russian Federation

This review addresses the concept of genetic load from the point of view of molecular genetics, development and efforts in selective breeding. As typical examples, the assessment of animals in the Holstein breed and its high-blooded crossbreeds is considered for mutations that cause three inherited diseases: bovine leukocyte adhesion deficiency (CD18 locus), complex vertebral malformation (SLC35A3 locus), and brachyspina (FANCI locus). The reasons for their occurrence and accumulation in the breeding herds of the black-pied genealogical root are discussed. These include an intense artificial-selection of bulls and cows in highly productive herds and the intensive sale (within and between countries) of breeding material (animals, semen, embryos) from a small population of sires from countries with a high level of dairy-cattle breeding development. There is a founder effect when the source of mutant-allele spread is a prominent sire. For example, the greatest contribution to the spread of mutant alleles CD18G, SLC35A3T and FANCIBY was made by the descendants of three closely related bulls. A genogeographic generalization of the mutation occurrence in the world and Russia is provided for these hereditary-disease loci and, includes a total of 31 countries where these mutations were detected. The genetic-load classification for these and other mutations is given. The mutations are inherited both recessively (CD18G, SLC35A3T, FANCIBY) and codominantly (CSN3A, CSN3C, CSN3E, CSN2A1, CSN2B). Genetic load is classified into the following types: mutational, segregation, substitutional, and immigration. For each of these, examples are given that explain their occurrence. Overall, it can be concluded that the phenomenon of genetic load in industrial herds of dairy cattle requires special attention when creating healthy livestock and obtaining high-quality dairy products.

Frequency of genotypic markers for genetic disorders, colour, polledness, and major genes in Blanco Orejinegro cattle.

The purpose of this work was to establish DNA marker frequencies for genetic disorders, colour, horned/polled trait, and major genes of importance for productive and reproductive traits in Blanco Orejinegro (BON) cattle. The Blanco Orejinegro breed is a Colombian creole breed characterized by a white hair coat on black skin with black ears, black hair on the middle part of the legs, and absence of horns. We genotyped 420 animals of Colombia, 70 with the GGP-Bovine 150K chip and 350 with the GGP-Bovine 50K chip. The markers were associated with 50 genetic diseases, 52 major gene variants related to productive traits, and 12 variants related to coat coloration, presence of horns, and adaptation, selected from the information contained in the chips. Genotype frequencies were estimated using the R statistical program. Genetic disorder annotations were derived using the Online Mendelian Inheritance in Animals tool (OMIA) and the average inbreeding coefficient (F) (n = 7799) using the MTDFNRM program. Carriers were found for 16 of the genetic disorders evaluated but with low frequencies (0.24 to 2.46%); no homozygous animals were found for the disorders. Carriers were associated with disorders such as bovine leukocyte adhesion deficiency (BLAD), deficiency of uridine monophosphate synthase (DUMPS), syndactyly, and epidermolysis bullosa (EB). The F was 4.41%. Concerning the genes associated with colour (TYR, MC1R, and PMEL), alleles related to black pigmentation, the absence of horns (polledness), and slick coat (an adaptive trait) were highly frequent (> 81.90%). Markers associated with milk production and quality, yellow fat, and fertility showed variable frequencies, indicating selection potential. Allele frequency of genetic disorders in BON cattle was low, suggesting few genetic disorder problems, with syndactyly being the most frequent condition. The markers associated with colour and polledness were almost fixed, with a frequency at or near 100%. Production and reproduction markers showed variability for selection.

Prevalence of nine genetic defects in Chinese Holstein cattle.

Worldwide use of elite sires has caused inbreeding accumulation and high frequencies of genetic defects in dairy cattle populations. In recent years, several genetic defect genes or haplotypes have been identified in Holstein cattle. A rapid and reliable microfluidic chip with Kompetitive allele‐specific PCR (KASP) assay was developed in our previous study for the detection of heterozygotes at eight genetic defect loci of bovine leukocyte adhesion deficiency (BLAD), Brachyspina syndrome (BS), complex vertebral malformation (CVM), Holstein haplotype 1 (HH1), Holstein haplotype 3 (HH3), Holstein haplotype 4 (HH4), Holstein haplotype 5 (HH5) and haplotype for cholesterol deficiency (HCD). This study aimed to extend that assay to include a newly identified genetic defect of Holstein haplotype 6 (HH6) and to estimate the frequencies of carriers for each of the nine genetic defects in six Chinese Holstein herds. Of the 1633 cows, carrier frequencies of the genetic defects were 6.92%, 5.76%, 4.46%, 4.30%, 3.62%, 2.94%, 1.86% and 0.37% for HH1, HH3, CVM, HH5, HCD, BS, HH6 and BLAD, respectively. No carrier was found for HH4. Notably, 27.43% of cows carried at least one genetic defect, while 2.27% and 0.12% of cows carried double and triple genetic defect alleles, respectively. The existence of genetic defects calls for routine molecular testing and effective management of genetic defects by avoiding carrier‐to‐carrier mating in production herds and eliminating or at least reducing the frequency of the defective alleles through marker‐assisted selection in breeding herds.

Simultaneous Genetic Screening of Bovine Leukocyte Adhesion Deficiency, Complex Vertebral Malformation, Deficiency of Uridine Monophosphate Synthase, and Mule foot in Holstein Cows in Taiwan

Simultaneous Genetic Screening of Bovine Leukocyte Adhesion Deficiency, Complex Vertebral Malformation, Deficiency of Uridine Monophosphate Synthase, and Mule foot in Holstein Cows in Taiwan

Występowanie chorób genetycznych (BLAD, DUMPS) w polskiej populacji bydła rasy holsztyńsko-fryzyjskiej

BLAD (bovine leukocyte adhesion deficiency) and DUMPS (deficiency of uridine monophosphate synthase) are hereditary lethal autosomal recessive disorders that may affect Holstein cattle. The aim of the present study was to evaluate the frequency of BLAD and DUMPS genotypes in the Polish population of dairy cows. In the study 5 732 Polish Holstein-Friesian females were genetically tested for BLAD and DUMPS. Results of the present study indicate that the Polish population of dairy cattle is free from DUMPS as there were not carriers nor sick animals. For BLAD the study confirmed the present of carriers in the population to be at a low value (0.21%). Both BLAD and DUMPS may strongly affect the profitability of a dairy farm, therefore, in order to avoid the economic losses caused by the presence of these genetic disorders in the herd it is important to screen the population and detect carriers as soon as possible.

Lethal and semi-lethal mutations in Holstein calves in Uruguay

ABSTRACT: Genetic disorders in Holstein cattle are a health problem that has grown worldwide in recent years, compromising the sustainability of modern dairy production. In Uruguay, Holstein-based milk production is one of the most important sectors of the country’s economy, but high levels of inbreeding have decreased the breed’s fertility in recent decades. This study investigated the presence and diffusion of lethal and semi-lethal alleles causing embryo death, abortions, fetal malformations, and neonatal diseases in Holstein calves. Using the GeneSeek® Genomic Profiler™ Bovine 50K BeadChip, we genotyped 383 calves (1-30 days-old) from 27 farms located in the main dairy region of Uruguay. Results showed a high prevalence of farms (85%) and carrier calves (21%), including one or more of the following semi-lethal or lethal alleles: Syndactylism (4.18%), brachyspina (3.39%), cholesterol deficiency haplotype (2.61%), complex vertebral malformation (2.09%), bovine leukocyte adhesion deficiency (1.04%s), and Holstein haplotypes HH1 (4.44%), HH3 (3.13%), HH4 (1.04%), and HH5 (0.26%). Most of these alleles had not been recognized previously in Uruguay. We concluded that lethal and semi-lethal mutations are widespread in the Holstein breed in Uruguay. More studies are required to determine their impact on dairy cattle fertility.

Use of SNPs from Illumina BovineSNP50K BeadChip v3 for imputation of microsatellite alleles for parentage verification and QTL reporting

The present study aimed to test the possibility of avoiding expensive retesting of the whole parental generation for single nucleotide polymorphisms (SNPs), to provide additional analysis of microsatellites in offspring in the transitional period and to analyse the likelihood of imputation of the International Society for Animal Genetics-recommended microsatellite markers from selected SNPs. The imputation and pedigree verification of 9 520 animals (representing 84 dairy bulls, 285 dairy cows, 3 202 beef bulls and 5 949 beef cows) were analysed by the method using 9 410 SNP haplotypes (incorporating an average of 73 SNPs per haplotype). The imputation method was confirmed to allow the parentage verification of up to 87% of the analysed animals without the need for retesting. The most problematic locus was TGLA53, with only 78% successful imputation. Seven loci (BM2113, ETH225, TGLA227, BM1824, SPS115, TGLA122 and TGLA126) had more than 90% imputing accuracy and success of imputation. The success of imputation also depends on the breed and the call rate of the test results. The highest imputation accuracy was found for the Holstein breed; the other six breeds had over 90% successful imputation rates, four breeds had imputation rates between 85.0 and 89.9%, and ten breeds (rarely bred in the Czech Republic) had imputation rates below 85.0%. A call rate of SNP tests lower than 90% indicates problems with haplotype construction and thus deterioration in the success of imputation. The analysis of a possibility of using all possible information from Illumina BovineSNP50K BeadChip v3 showed 109 SNPs encoding 51 quantitative trait loci markers. Haplotypes were designed for interpretation of the most important markers for diseases, exterior and performance. The most important markers for Holstein breeders were chosen as kappa- (variants A, B and E) and beta-casein (variants A1, A2), Holstein haplotypes affecting fertility (HH1, HH3, and HH4) and loci causing genetic defects, bovine leukocyte adhesion deficiency and deficiency of uridine monophosphate synthetase. The results estimated from bovine bead chips corresponded to the expected distribution of the incidence of these traits in the population and were verified by PCR-RFLP tests.

Detection of the CD18 gene mutation as a marker of BLAD genetic disorder of Holstein-Friesian cattle in West Java

<p class="MDPI17abstract"><strong>Objective: </strong>Bovine Leukocyte Adhesion Deficiency (BLAD) is a genetic disorder in Holstein-Friesian (HF) cattle that have a significant economic impact on dairy cattle breeding. Mutation c.383A>G in Cluster of Differentiation Molecule 18 (CD18) gene was known as related to BLAD. This study aimed to detect the CD18 gene mutation that causes BLAD of HF cattle in the West Java Province.</p><p class="MDPI17abstract"><strong>Methods: </strong>The genomic DNA was extracted from 88 blood samples of HF cattle from Cibungbulang-Bogor (n=34), Ciampea-Bogor (n=31), and Sukabumi (n=23) by the GB300 DNA extraction kit, Geneaid<sup>TM</sup>. The CD18 gene mutation was detected by PCR-RFLP analysis using the <em>Taq</em>I restriction endonuclease.<strong></strong></p><p class="MDPI17abstract"><strong>Results: </strong>All samples in this study produced two fragments DNA, i.e., 359 bp and 260 bp with the monomorphic homozygote genotype (BB). HF cattle with BB genotype indicated as normal cattle and did not carry BLAD.<strong></strong></p><strong>Conclusions: </strong>All samples in the three populations of West Java were free of BLAD genetic disorder. Identification of BLAD on HF cattle in other places, including bulls in the Center of Semen Production in Indonesia was needed to prevent this genetic disorder.

Technical note: Development and application of KASP assays for rapid screening of 8 genetic defects in Holstein cattle

Specific DNA mutations underlying several genetic defects associated with embryo loss or reduced calf survivability have been identified in dairy cattle, and a convenient and cost-effective platform is required for their routine screening. We developed Kompetitive allele-specific PCR (KASP) assays for discrimination of the wild-type alleles from the associated defective alleles at each of 8 common genetic defects in Holstein cattle, involving 5 SNP [HH1, HH3, HH4, bovine leukocyte adhesion deficiency (BLAD), and complex vertebral malformation (CVM)] and 3 insertion or deletion mutations [HH5, haplotype for cholesterol deficiency (HCD), and brachyspina (BS)]. A total of 390 cows from a Chinese Holstein herd were genotyped and the carriers identified at 7 of these 8 loci (except HH4), with the highest carrier frequencies found for CVM (10.5%) and HH1 (10.0%), followed by HH3 (2.6%), BS (2.1%), HCD (1.3%), HH5 (0.8%), and BLAD (0.5%). Surprisingly, 102 cows (26.2%) carried at least 1 of the 7 defective alleles. Our results demonstrate that these KASP assays are simple, rapid, and reliable for the detection of multiple genetic defects. The high carrier frequency of these genetic defects indicates an urgent need for routine molecular testing to eliminate the deleterious alleles from Chinese Holstein cattle.

Carrier frequency of autosomal recessive disorders (BC, BLAD, FXID and CVM) in Holstein cows in Jalisco, Mexico

ABSTRACT: The hereditary autosomal recessive disorders bovine citrullinemia (BC), bovine leukocyte adhesion deficiency (BLAD), factor XI deficiency (FXID), and complex vertebral malformation (CVM) have affected dairy cattle breeding significantly around the world. This study examined the carrier frequency of BC, BLAD, FXID, and CVM autosomal recessive disorders in Bos taurus Holstein cows bred in the Altos Norte region of the state of Jalisco, Mexico. We extracted DNA from 408 random samples of peripheral blood, and then used polymerase chain reaction (PCR) to identify insertion mutations for FXID, and PCR with restriction fragment length polymorphism (PCR-RFLP) for CVM, BC and BLAD. We visualized the PCR products using agarose gel electrophoresis stained with GelRed®. We found that 100% of wild-type (N/N) allele homozygous animals for genes CD18, ASS, and FXI were free of the mutations for BLAD, BC and FXID respectively. For gene SLC35A3 we estimated total carrier frequency of 10.3% and allele frequency of 5%.

Screening of Hardhenu Crossbred, Sahiwal and Hariana Bulls for Autosomal Recessive Genetic Disorder Bovine Leukocyte Adhesion Deficiency (BLAD)

The present study involved screening of Hardhenu crossbred, Sahiwal and Hariana bulls for autosomal recessive genetic disorder i.e Bovine Leukocyte Adhesion Deficiency (BLAD) using PCR based techniques. BLAD is a lethal autosomal recessive disease caused due to a point mutation (A→G) at nucleotide 383 in the CD18 gene which results in substitution of aspartic acid with glycine in the adhesion glycoprotein CD18. All animals under study were maintained at Cattle Breeding Farm, LalaLajpat Rai University of Veterinary and Animal Science (LUVAS), Hisar, India. About 5 ml blood was collected aseptically from jugular vein puncture into EDTA containing tubes, transported to the animal genomics laboratory and stored at-20°C until genomic DNA extraction, which was carried out using Phenol Chloroform method. The targeted genomic area of interest was amplified by using simple PCR technique. The amplified PCR products were digested with TaqI restriction enzyme. The targeted amplicon of 357 bp after digestion of the PCR product, the normal allele in unaffected bull produced two fragments of 201 bp and 156 bp. All the animals under study were found to be free from Bovine Leukocyte Adhesion Deficiency. The molecular screening revealed that none of the bulls screened under study was carrier for BLAD. The present study suggests that the PCR and PCR-RFLP based technique could be employed as an efficient technique for screening of various genetic disorders for identification of carriers or affected animals before using them in breeding programs to minimize the spread of defective allele.

Detection of allele and genotype frequencies of bovine leukocyte adhesion deficiency, factor XI deficiency and complex vertebral malformation disease genes in Holstein cattle

Hereditary diseases cause yield and economic loses. It is important to examine hereditary diseases at the molecular level and to remove diseases from the herd. In our study, it was aimed to determine allele frequencies of genes that cause bovine leukocyte adhesion deficiency, factor XI deficiency and complex vertebral malformation diseases in Holstein cattle. Blood samples were randomly taken from 300 Holstein cattle in different dairy farms in Kocaeli, Sakarya and Balıkesir provinces. Deoxyribonucleic acid samples were isolated from blood samples by using the standard ammonium acetate salt-out method. The target regions were amplified by polymerase chain reaction to determine the mutant alleles causing bovine leukocyte adhesion deficiency, factor XI deficiency and complex vertebral malformation. According to the nucleotide chromotograms of the samples subjected to bovine leukocyte adhesion deficiency analysis, it was determined that 4 out of 300 cattle were heterozygous and 296 were homozygous. Polymerase chain reaction procedure for factor XI deficiency disease was sufficient, while samples amplified by polymerase chain reaction for complex vertebral malformation disease were subjected to restriction particle length polymorphism. Factor XI deficiency and complex vertebral malformation disease genes were all homozygous normal.

HIGH- RESOLUTION MELTING (HRM) CURVE ANALYSIS: NEW APPROACH USED TO DETECT BLAD AND DUMPS IN URUGUAYAN HOLSTEIN BREED

The widespread use of artificial insemination has allowed the expansion of genetic progress. However, it also brought consequences such as the expansion of lethal hereditary diseases and the increase in inbreeding. The object of this study was to establish a fast and sensitive molecular assay to detect bovine leukocyte adhesion deficiency (BLAD) and deficiency of uridine monophosphate synthase (DUMPS) carriers in Uruguayan Holstein cattle by means of high resolution melting (HRM) curve analysis. By testing previously confirmed carrier and non-carrier animals, we set up a rapid, simple, and inexpensive diagnostic test using PCR followed by HRM curve analysis. The PCR-HRM genotyping method was effective for the discrimination of BLAD and DUMPS homozygous genotypes, and the BLAD heterozygous genotype. We conclude that the PCR-HRM assay is a robust, reliable, and economical tool for the detection of these mutations in the Holstein breed, which may be implemented in genetic selection programs.

Allele frequency estimation of BLAD (Bovine Leukocyte Adhesion Deficiency) in dairy cattle in Enrekang regency South Sulawesi Indonesia

Bovine leukocyte adhesion deficiency (BLAD) is a genetic disorder in dairy cows that are generally lethal or premature in cattle that can have an impact on productivity and result in losses for farmers. The purpose of this study is to identify the distribution of the BLAD recessive allele in dairy cows raised in Enrekang dairy cattle development centers. Identification of recessive BLAD allele using the PCR-RFLP method. A total of 80 DNA samples in a collection of blood samples from FH dairy cows from Enrekang regency (50 heads from Cendana and 30 heads from Anggeraja district) were extracted and amplified by PCR, then the PCR product was cut with the Taq1 restriction enzymes. The identification of the BLAD carrier alleles is calculated according to the frequency of genotypes and alleles. The results obtained from this study is (+/-) heterozygous cows (BLAD carrier) found 1 head (with a frequency of the allele (-) (BLAD recessive) of 0.01) in the Cendana district of 50 samples, while the Bovine population in the district Anggeraja did not found any BLAD recessive allele. The results of this study concluded that there is a normal heterozygous dairy cows (BLAD carrier) in the dairy cows population in the Enrekang regency, although the proportion / frequency of alleles is very low (0.625%). This research can be used as a reference in selecting dairy cattle, especially those related to the spread of lethal alleles in dairy cattle development areas in South Sulawesi.

MODERN MOLECULAR-GENETIC APPROACH TO INCREASE EFFICIENCY OF SELECTION PROCESS IN ANIMAL BREEDING OF UKRAINE

MODERN MOLECULAR-GENETIC APPROACH TO INCREASE EFFICIENCY OF SELECTION PROCESS IN ANIMAL BREEDING OF UKRAINE

Inherited Diseases of Holstein Cattle: Story So Far in Turkey

Inherited diseases are caused by recessive alleles proceed from increased inbreeding in Holstein cattle population. Bovine leucocyte adhesion deficiency (BLAD), deficiency of uridine monophosphate synthase enzyme (DUMPS), complex vertebral malformation (CVM), factor XI deficiency (FXID) and bovine citrulinaemia (BC) are the most frequent inherited diseases in Holstein cattle population. The prevalence for carriers of BLAD, DUMPS, CVM, FXID and BC diseases were reported highest in Denmark (21.5%), USA (1.2%), Japan (32.5%), Turkey (18%) and Australia (13%) respectively. Moreover the highest prevalence for carriers of BLAD, CVM and FXID were reported as 2.2%, 3.4% and 18% respectively in Turkey so far. Neither DUMPS nor BC carriers were identified in Turkey so far. However further studies are required in order to identify the provinces that have risks for mutant alleles of inherited diseases in Turkey. Determining the carrier animals and exclude them from breeding is the only solution for eradication studies of inherited diseases.