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Screening for bovine leukocyte adhesion deficiency, deficiency of uridine monophosphate synthase, complex vertebral malformation, bovine citrullinaemia, and factor XI deficiency in Holstein cows reared in Turkey.

Meydan H, Yildiz MA, Agerholm JS - Acta Vet. Scand. (2010)

Bottom Line: Fourteen BLAD, twelve CVM and four FXID carriers were found among the 350 Holstein cows examined, while carriers of DUMPS and BC were not detected.As artificial insemination is widely used in dairy cattle breeding, carriers of BLAD, CVM and FXID are likely present within the population of breeding sires.It is recommended to screen breeding sires for these defective genes in order to avoid an unwanted spread within the population.

View Article: PubMed Central - HTML - PubMed

Affiliation: Animal Sciences, Faculty of Agriculture, Ankara University, Dışkapı, Ankara, Turkey. meydan@agri.ankara.edu.tr

ABSTRACT

Background: Bovine leukocyte adhesion deficiency (BLAD), deficiency of uridine monophosphate synthase (DUMPS), complex vertebral malformation (CVM), bovine citrullinaemia (BC) and factor XI deficiency (FXID) are autosomal recessive hereditary disorders, which have had significant economic impact on dairy cattle breeding worldwide. In this study, 350 Holstein cows reared in Turkey were screened for BLAD, DUMPS, CVM, BC and FXID genotypes to obtain an indication on the importance of these defects in Turkish Holsteins.

Methods: Genomic DNA was obtained from blood and the amplicons of BLAD, DUMPS, CVM, BC and FXID were obtained by using PCR. PCR products were digested with TaqI, AvaI and AvaII restriction enzymes for BLAD, DUMPS, and BC, respectively. These digested products and PCR product of FXID were analyzed by agarose gel electrophoresis stained with ethidium bromide. CVM genotypes were detected by DNA sequencing. Additionally, all genotypes were confirmed by DNA sequencing to determine whether there was a mutant allele or not.

Results: Fourteen BLAD, twelve CVM and four FXID carriers were found among the 350 Holstein cows examined, while carriers of DUMPS and BC were not detected. The mutant allele frequencies were calculated as 0.02, 0.017, and 0.006 for BLAD, CVM and FXID, respectively with corresponding carrier prevalence of 4.0% (BLAD), 3.4% (CVM) and 1.2% (FXID).

Conclusion: This study demonstrates that carriers of BLAD, CVM and FXID are present in the Turkish Holstein population, although at a low frequency. The actual number of clinical cases is unknown, but sporadic cases may appear. As artificial insemination is widely used in dairy cattle breeding, carriers of BLAD, CVM and FXID are likely present within the population of breeding sires. It is recommended to screen breeding sires for these defective genes in order to avoid an unwanted spread within the population.

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Alignment of complex vertebral malformation (CVM) sequences from normal (HM183012) and mutant (HM183013) CVM alleles. The mutation consists of a single point mutation of nucleotide 559 in the SLC35A3 gene. The box indicates the single point mutation site (G→T).
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Figure 3: Alignment of complex vertebral malformation (CVM) sequences from normal (HM183012) and mutant (HM183013) CVM alleles. The mutation consists of a single point mutation of nucleotide 559 in the SLC35A3 gene. The box indicates the single point mutation site (G→T).

Mentions: All genotypes were confirmed by doing partial sequencing. The nucleotide sequences were deposited in GenBank with accession numbers FJ853493 for BLAD, HM183012 and HM183013 for CVM, FJ853494 for BC, FJ853492 and GQ144406 for FXID. The result of sequencing for the mutant BLAD allele was confirmed a single point mutation at the nucleotide 383 in the CD18 gene as reported before [38] (Fig. 2.). The sequencing of the mutant CVM allele was consistent with the previous report [20] (Fig. 3.). The mutant FXID allele sequencing result was also consistent with a prior report [32] describing a mutation consisting of a 76 bp insertion containing poly adenine sequences along with a STOP codon (TAA) (Fig. 4.).


Screening for bovine leukocyte adhesion deficiency, deficiency of uridine monophosphate synthase, complex vertebral malformation, bovine citrullinaemia, and factor XI deficiency in Holstein cows reared in Turkey.

Meydan H, Yildiz MA, Agerholm JS - Acta Vet. Scand. (2010)

Alignment of complex vertebral malformation (CVM) sequences from normal (HM183012) and mutant (HM183013) CVM alleles. The mutation consists of a single point mutation of nucleotide 559 in the SLC35A3 gene. The box indicates the single point mutation site (G→T).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2959049&req=5

Figure 3: Alignment of complex vertebral malformation (CVM) sequences from normal (HM183012) and mutant (HM183013) CVM alleles. The mutation consists of a single point mutation of nucleotide 559 in the SLC35A3 gene. The box indicates the single point mutation site (G→T).
Mentions: All genotypes were confirmed by doing partial sequencing. The nucleotide sequences were deposited in GenBank with accession numbers FJ853493 for BLAD, HM183012 and HM183013 for CVM, FJ853494 for BC, FJ853492 and GQ144406 for FXID. The result of sequencing for the mutant BLAD allele was confirmed a single point mutation at the nucleotide 383 in the CD18 gene as reported before [38] (Fig. 2.). The sequencing of the mutant CVM allele was consistent with the previous report [20] (Fig. 3.). The mutant FXID allele sequencing result was also consistent with a prior report [32] describing a mutation consisting of a 76 bp insertion containing poly adenine sequences along with a STOP codon (TAA) (Fig. 4.).

Bottom Line: Fourteen BLAD, twelve CVM and four FXID carriers were found among the 350 Holstein cows examined, while carriers of DUMPS and BC were not detected.As artificial insemination is widely used in dairy cattle breeding, carriers of BLAD, CVM and FXID are likely present within the population of breeding sires.It is recommended to screen breeding sires for these defective genes in order to avoid an unwanted spread within the population.

View Article: PubMed Central - HTML - PubMed

Affiliation: Animal Sciences, Faculty of Agriculture, Ankara University, Dışkapı, Ankara, Turkey. meydan@agri.ankara.edu.tr

ABSTRACT

Background: Bovine leukocyte adhesion deficiency (BLAD), deficiency of uridine monophosphate synthase (DUMPS), complex vertebral malformation (CVM), bovine citrullinaemia (BC) and factor XI deficiency (FXID) are autosomal recessive hereditary disorders, which have had significant economic impact on dairy cattle breeding worldwide. In this study, 350 Holstein cows reared in Turkey were screened for BLAD, DUMPS, CVM, BC and FXID genotypes to obtain an indication on the importance of these defects in Turkish Holsteins.

Methods: Genomic DNA was obtained from blood and the amplicons of BLAD, DUMPS, CVM, BC and FXID were obtained by using PCR. PCR products were digested with TaqI, AvaI and AvaII restriction enzymes for BLAD, DUMPS, and BC, respectively. These digested products and PCR product of FXID were analyzed by agarose gel electrophoresis stained with ethidium bromide. CVM genotypes were detected by DNA sequencing. Additionally, all genotypes were confirmed by DNA sequencing to determine whether there was a mutant allele or not.

Results: Fourteen BLAD, twelve CVM and four FXID carriers were found among the 350 Holstein cows examined, while carriers of DUMPS and BC were not detected. The mutant allele frequencies were calculated as 0.02, 0.017, and 0.006 for BLAD, CVM and FXID, respectively with corresponding carrier prevalence of 4.0% (BLAD), 3.4% (CVM) and 1.2% (FXID).

Conclusion: This study demonstrates that carriers of BLAD, CVM and FXID are present in the Turkish Holstein population, although at a low frequency. The actual number of clinical cases is unknown, but sporadic cases may appear. As artificial insemination is widely used in dairy cattle breeding, carriers of BLAD, CVM and FXID are likely present within the population of breeding sires. It is recommended to screen breeding sires for these defective genes in order to avoid an unwanted spread within the population.

Show MeSH
Related in: MedlinePlus