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Factor IX gene sequencing by a simple and sensitive 15‐hour procedure for haemophilia B diagnosis: identification of two novel mutations
Author(s) -
Vidal Francisco,
Farssac Elisenda,
Altisent Carme,
Puig Lluís,
Gallardo Dominique
Publication year - 2000
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2000.02389.x
Subject(s) - haemophilia b , haemophilia a , haemophilia , dna sequencing , mutation , factor ix , dna , genetics , gene , identification (biology) , computational biology , biology , microbiology and biotechnology , botany
We have developed a simple, sensitive and cost‐effective direct DNA sequencing procedure for the molecular diagnosis of haemophilia B. All factor IX gene essential regions were amplified under identical thermocycling parameters allowing mutation identification in less than 15 h from blood sample collection. Identical results in terms of accuracy and speed were obtained when using a single hair as the source of DNA. Using this approach, we have found mutations in 10 out of 10 haemophilia B patients, two of which are novel (P287T and S123C). Very suitable for individual studies, this procedure can be easily scaled up for higher throughput.