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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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Related in: MedlinePlus

Illustration of BLAD, DUMPS, BC and FXID genotypes on agarose gels. (a) genotypes of bovine leukocyte adhesion deficiency (BLAD), (b) genotypes of deficiency of uridine monophosphate synthase (DUMPS), (c) genotypes of bovine citrullinaemia (BC) and (d) genotypes of factor XI deficiency (FXID). +/+: unaffected genotype, +/-: carrier genotype, -/-: affected genotype, M: DNA Ladder.
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Figure 1: Illustration of BLAD, DUMPS, BC and FXID genotypes on agarose gels. (a) genotypes of bovine leukocyte adhesion deficiency (BLAD), (b) genotypes of deficiency of uridine monophosphate synthase (DUMPS), (c) genotypes of bovine citrullinaemia (BC) and (d) genotypes of factor XI deficiency (FXID). +/+: unaffected genotype, +/-: carrier genotype, -/-: affected genotype, M: DNA Ladder.

Mentions: The primers listed in Table 1 successfully amplified the DNA fragments of 357 bp, 108 bp, 281 bp, 198 bp and 320 bp for BLAD, DUMPS, CVM, BC and FXID, respectively. The PCR products of BLAD, DUMPS and BC were digested with TaqI, AvaI and AvaII restriction enzymes, respectively. After digestion of the PCR products, the normal BLAD allele in unaffected cattle produced two fragments of 156 bp and 201 bp. BLAD carriers exhibit three fragments of 156 bp, 201 bp and 357 bp. In unaffected animals, normal DUMPS allele exhibits three fragments of 53 bp, 36 bp and 19 bp. DUMPS carriers gave four fragments of 89 bp, 53 bp, 36 bp and 19 bp. The normal allele of BC produced two fragments of 109 bp and 89 bp. After the PCR, the normal FXID allele in unaffected animals produced a single 244 bp fragment. In homozygous affected animals, the fragment had a length of 320 bp and FXID carriers exhibited two fragments of 244 bp and 320 bp (Fig. 1.).


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)

Illustration of BLAD, DUMPS, BC and FXID genotypes on agarose gels. (a) genotypes of bovine leukocyte adhesion deficiency (BLAD), (b) genotypes of deficiency of uridine monophosphate synthase (DUMPS), (c) genotypes of bovine citrullinaemia (BC) and (d) genotypes of factor XI deficiency (FXID). +/+: unaffected genotype, +/-: carrier genotype, -/-: affected genotype, M: DNA Ladder.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 1: Illustration of BLAD, DUMPS, BC and FXID genotypes on agarose gels. (a) genotypes of bovine leukocyte adhesion deficiency (BLAD), (b) genotypes of deficiency of uridine monophosphate synthase (DUMPS), (c) genotypes of bovine citrullinaemia (BC) and (d) genotypes of factor XI deficiency (FXID). +/+: unaffected genotype, +/-: carrier genotype, -/-: affected genotype, M: DNA Ladder.
Mentions: The primers listed in Table 1 successfully amplified the DNA fragments of 357 bp, 108 bp, 281 bp, 198 bp and 320 bp for BLAD, DUMPS, CVM, BC and FXID, respectively. The PCR products of BLAD, DUMPS and BC were digested with TaqI, AvaI and AvaII restriction enzymes, respectively. After digestion of the PCR products, the normal BLAD allele in unaffected cattle produced two fragments of 156 bp and 201 bp. BLAD carriers exhibit three fragments of 156 bp, 201 bp and 357 bp. In unaffected animals, normal DUMPS allele exhibits three fragments of 53 bp, 36 bp and 19 bp. DUMPS carriers gave four fragments of 89 bp, 53 bp, 36 bp and 19 bp. The normal allele of BC produced two fragments of 109 bp and 89 bp. After the PCR, the normal FXID allele in unaffected animals produced a single 244 bp fragment. In homozygous affected animals, the fragment had a length of 320 bp and FXID carriers exhibited two fragments of 244 bp and 320 bp (Fig. 1.).

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