Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid chromatography
Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid chromatography
Factor XI (FXI) deficiency is an autosomal bleeding disorder of variable severity. Inheritance is not completely recessive as heterozygotes may display a distinct, if mild, bleeding tendency. Eighteen unrelated FXI-deficient patients were screened blind by fluorescent single-stranded conformation polymorphism (F-SSCP) analysis and denaturing high-performance liquid chromatography (dHPLC). Mutations were detected in 14 of the 18 patients ( approximately 78%) by F-SSCP and in all 18 patients by dHPLC. Dideoxy sequencing confirmed the mutations in all 18 patients: eight of the mutations being novel (four of which were in previously reported patients). This showed dHPLC to be a highly sensitive, reliable technique for mutation screening in heterogeneous disorders.
Chromatography, High Pressure Liquid/methods, DNA Mutational Analysis, Factor XI Deficiency/diagnosis, Humans, Jews, Mutation, Polymorphism, Single-Stranded Conformational
500-502
Mitchell, Michael
dfeefa2c-a466-4012-ad68-a1d25e846810
Harrington, Purvee
56774d7c-d2bb-4dfd-b0ec-dd74a30ee734
Cutler, Jacqueline
a71149b6-f5ef-477b-9d50-5f84ba679d55
Rangarajan, Savita
9a5e4c7e-55ba-4a3a-b5f6-f1e269d927c3
Savidge, Geoffrey
f4f07452-f896-4b98-b929-5bbee3bff8a8
Alhaq, Anwar
6bf4bef6-b6de-4be4-a9ac-42c5d2013c39
May 2003
Mitchell, Michael
dfeefa2c-a466-4012-ad68-a1d25e846810
Harrington, Purvee
56774d7c-d2bb-4dfd-b0ec-dd74a30ee734
Cutler, Jacqueline
a71149b6-f5ef-477b-9d50-5f84ba679d55
Rangarajan, Savita
9a5e4c7e-55ba-4a3a-b5f6-f1e269d927c3
Savidge, Geoffrey
f4f07452-f896-4b98-b929-5bbee3bff8a8
Alhaq, Anwar
6bf4bef6-b6de-4be4-a9ac-42c5d2013c39
Mitchell, Michael, Harrington, Purvee, Cutler, Jacqueline, Rangarajan, Savita, Savidge, Geoffrey and Alhaq, Anwar
(2003)
Eighteen unrelated patients with factor XI deficiency, four novel mutations and a 100% detection rate by denaturing high-performance liquid chromatography.
British Journal of Haematology, 121 (3), .
(doi:10.1046/j.1365-2141.2003.04302.x).
Abstract
Factor XI (FXI) deficiency is an autosomal bleeding disorder of variable severity. Inheritance is not completely recessive as heterozygotes may display a distinct, if mild, bleeding tendency. Eighteen unrelated FXI-deficient patients were screened blind by fluorescent single-stranded conformation polymorphism (F-SSCP) analysis and denaturing high-performance liquid chromatography (dHPLC). Mutations were detected in 14 of the 18 patients ( approximately 78%) by F-SSCP and in all 18 patients by dHPLC. Dideoxy sequencing confirmed the mutations in all 18 patients: eight of the mutations being novel (four of which were in previously reported patients). This showed dHPLC to be a highly sensitive, reliable technique for mutation screening in heterogeneous disorders.
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Published date: May 2003
Keywords:
Chromatography, High Pressure Liquid/methods, DNA Mutational Analysis, Factor XI Deficiency/diagnosis, Humans, Jews, Mutation, Polymorphism, Single-Stranded Conformational
Identifiers
Local EPrints ID: 443331
URI: http://eprints.soton.ac.uk/id/eprint/443331
ISSN: 0007-1048
PURE UUID: 765f92ed-4dd6-4817-8758-e7d757bc2dda
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Date deposited: 20 Aug 2020 16:34
Last modified: 17 Mar 2024 04:02
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Author:
Michael Mitchell
Author:
Purvee Harrington
Author:
Jacqueline Cutler
Author:
Geoffrey Savidge
Author:
Anwar Alhaq
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