Heterozygous factor XI deficiency associated with three novel mutations

British Journal of Haematology

Volumn 107, Issue 4, 1999, Pages 763-765

  Mitchell, Michael ^a   Cutler, Jacky ^a   Thompson, Simon ^a   Moore, Gary ^a   Rees, Elaine Jenkins Ap ^a   Smith, Mark ^a   Savidge, Geoffrey ^a   Alhaq, Anwar ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

Heterozygous factor XI deficiency; PCR SSCP

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; BLOOD CLOTTING FACTOR 11 DEFICIENCY; CONTROLLED STUDY; DNA SEQUENCE; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; PRIORITY JOURNAL; SCREENING TEST; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0033402896     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1999.01769.x     Document Type: Article

References (17)

1. Alhaq, A., Mitchell, M., Sethi, M., Rahman, S., Flynn, G., Boulton, P., Caeno, G., Smith, M. & Savidge, G. (1999) Identification of a novel mutation in a non-Jewish factor XI deficient kindred. British Journal of Haematology, 104, 44-49.
2. Asakai, R., Chung, D.W., Davie, E.W. & Seligsohn, U. (1991) Factor XI deficiency in Ashkenazi Jews in Israel. New England Journal of Medicine, 325, 153-158.
3. Asakai, R., Davie, E.W. & Chung, D.W. (1987) Organization of the gene for human factor XI. Biochemistry, 26, 7667-7678.
4. Bolton-Maggs, P.H.B. (1996) Factor XI deficiency. Bailliere's Clinical Haematology, 9, 355-368.
5. Hancock, J.F., Wieland, K., Pugh, R.E., Martinowitz, U., Schulman, S., Kakkar, V.V., Kernoff, P.B. & Cooper, D.N. (1991) A molecular genetic study of factor XI deficiency. Blood, 77, 1942-1948.
6. Imanaka, Y. Lal, K., Nishimura, T., Bolton-Maggs, P.H.B., Tuddenham, E.G.D. & McVey, J.H. (1995) Identification of two novel mutations in non-Jewish factor XI deficiency. British Journal of Haematology, 90, 916-920.
7. Imanaka, Y., McVey, J.H., Nishimura, T., Bolton-Maggs, P., Lloyd, J. & Tuddenham, E.G.D. (1993) Identification and characterization of mutations in the factor XI gene of non-Jewish FXI deficient patients. Thrombosis and Haemostasis, 69, 763a.
8. Martincic, D., Zimmerman, S.A., Ware, R.E., Sun, M., Whitlock, J.A. & Gailani, D. (1998) Identification of mutations and polymorphisms in the factor XI genes of an African-American family by dideoxyfingerprinting. Blood, 92, 3309-3317 (Erratum (1999) Blood, 93, 1786).
9. Meijers, J.C.M., Davie, E.W. & Chung, D.W. (1992a) Characterization of the defect in factor XI type III deficiency. Blood, 79, 1435-1440.
10. Meijers, J.C.M., Mulvihill, E.R., Davie, E.W. & Chung, D.W. (1992b) Apple four in human blood coagulation factor XI mediates dimer formation. Biochemistry, 31, 4680-4684.
11. Peretz, H., Zivelin, A., Usher, S. & Seligsohn, S. (1996) A 14bp deletion (codon 554 del AAGgtaacagagtg) at exon 14/intron N junction of the coagulation factor XI gene disrupts splicing and causes severe factor XI deficiency. Human Mutation, 8, 77-78.
12. Poon, M.C., Anand, S., Fraser, B.M., Hoar, D.I. & Sinclair, G.D. (1993) Hemophilia B carrier determination based on family-specific mutation detection by DNA single-strand conformation analysis. Journal of Laboratory and Clinical Medicine, 122, 55-63.
13. Pugh, R.E., McVey, J.H., Tuddenham, E.G.D. & Hancock, J.F. (1995) Six point mutations that cause factor XI deficiency. Blood, 85, 1509-1516.
14. Rapaport, S.I., Procoter, R.R., Patch, M.J. & Yettra, M. (1961) The mode of inheritance of PTA deficiency: evidence for the existence of major PTA deficiency and minor PTA deficiency. Blood, 18, 149-165.
15. Seligsohn, U. & Modan, M. (1981) Definition of the population at risk of bleeding due to factor XI deficiency in Ashkenazic Jews and the value of the activated partial thromboplastin time in its detection. Israeli Journal of Medical Science, 17, 413-415.
16. Sidi, A., Seligsohn, U., Jonas, P. & Many, M. (1978) Factor XI deficiency: detection and management during urologic surgery. Journal of Urology, 119, 528-530.
17. Wistinghausen, B., Reischer, A., Oddoux, C., Ostrer, H., Nardi, M. & Karpatkin, M. (1997) Severe factor XI deficiency in an Arab family associated with a novel mutation in exon 11. British Journal of Haematology, 99, 575-577.