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 po...

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Bibliographic Details
Published in:British journal of haematology 2003-05, Vol.121 (3), p.500-502
Main Authors: Mitchell, Michael, Harrington, Purvee, Cutler, Jacqueline, Rangarajan, Savita, Savidge, Geoffrey, Alhaq, Anwar
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromatography, High Pressure Liquid - methods
denaturing HPLC
DNA Mutational Analysis
factor XI deficiency
Factor XI Deficiency - diagnosis
Factor XI Deficiency - genetics
fluorescent SSCP
Hematologic and hematopoietic diseases
Hematology
Humans
Jews
Medical sciences
Mutation
mutation screening
Platelet diseases and coagulopathies
Polymorphism, Single-Stranded Conformational
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Summary: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 (∼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.
ISSN:0007-1048
1365-2141
DOI:10.1046/j.1365-2141.2003.04302.x