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Haemophilia B: database of point mutations and short additions and deletions, 7th edition
F Giannelli1, P M Green, S S Sommer
1Paediatric Research Unit, Guy's Tower, London Bridge, London SE1 9RT, UK.
Insights
The updated Haemophilia B database catalogs 1535 factor IX mutations, detailing patient data like factor activity and inhibitor presence. This resource aids research into genetic causes of Haemophilia B.
Area of Science:
- Hematology
- Genetics
- Molecular Biology
Background:
- Haemophilia B is a genetic bleeding disorder caused by mutations in the Factor IX gene.
- Accurate and comprehensive databases are crucial for understanding genotype-phenotype correlations.
Purpose of the Study:
- To present the seventh edition of the Haemophilia B database.
- To provide an updated, easily accessible compilation of known Factor IX mutations.
Main Methods:
- Compilation of data from published literature and contributing laboratories.
- Inclusion of mutations caused by small genetic changes (<30 bp).
- Organization of 1535 patient entries by mutation nucleotide number.
Main Results:
- The database contains 1535 patient entries detailing Factor IX mutations.
- Information includes factor IX activity, circulating antigen levels, inhibitor status, and mutation origin.
- References and data-generating laboratories are cited for each entry.
Conclusions:
- The Haemophilia B database serves as a vital resource for researchers studying the genetic basis of the disorder.
- This updated edition facilitates a deeper understanding of Factor IX mutations and their clinical impact.
Abstract:
The seventh edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of <30 bp) identified in haemophilia B patients. The 1535 patient entries are ordered by the nucleotide number of their mutation. Where known, details are given on: factor IX activity, factor IX antigen in circulation, presence of inhibitor and origin of mutation. References to published mutations are given and the laboratories generating the data are indicated.