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Identification of carriers of the mutation causing coagulation factor XI deficiency in Polish Holstein-Friesian cattle

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Gurgul A., Rubis D., Slota E.

Journal of Applied Genetics

2009

vol. 50

issue 2

149-152

Factor XI (FXI) deficiency is a hereditary coagulation disorder observed in various mammalian species. The molecular basis of coagulopathy has been recognized in Holstein cattle as a 76-bp insertion in the coding region of the FXI gene. Because the disorder seems to have an impact on reproductive traits and udder health in cattle, we tested 103 randomly selected cows, 28 cows with repeat breeding, and 9 cows with recurrent mastitis for the presence of an abnormal FXI allele. Three related cows were diagnosed as carriers.

X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gen

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Popowska E., Pronicka P. E., Pronicka E., Sulek S. A., Sulek A., Jurkiewicz J. D., Jurkiewicz D., Rowe R. P., Rowe P., Rowinska R. E., Rowinska E., Krajewska-Walasek K.-W. M., Krajewska-Walasek M.

Journal of Applied Genetics

2000

vol. 41

issue 4

293-302

We present twenty-nine PHEX gene mutations extending our previous work, giving it to a total of 37 different mutations identified in Polish patients with familial or sporadic X-linked hypophosphatemia. Deletions, insertions and nucleotide substitutions leading to frameshift (27%), stop codon (29%), splice site (24%), and missense mutations (20%) were found. The mutations are distributed along the gene, exons 3, 4, 11, 12, 14, 15, 17, 20 and 22 are regions with the most frequent mutation events. Four mutations, P534L, G579R, R549X and IVS15+1nt, recurred in three, four, two and three unrelated patients, respectively. They have also been detected in affected persons from other countries. Twenty-eight mutations are specific for Polish population and almost all of them are unique. Most of the identified mutations are expected to result in major changes in protein structure and/or function.

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2 Journal of Applied Genetics

1 2009

1 2000

1 Gurgul A.

1 Jurkiewicz D.

1 Jurkiewicz J. D.

1 Krajewska-Walasek K.-W. M.

1 Krajewska-Walasek M.

1 Popowska E.

1 Pronicka E.

1 Pronicka P. E.

1 Rowe P.

1 Rowe R. P.

1 Rowinska E.

1 Rowinska R. E.

1 Rubis D.

1 Slota E.

1 Sulek A.

1 Sulek S. A.

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Identification of carriers of the mutation causing coagulation factor XI deficiency in Polish Holstein-Friesian cattle

X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gen