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Haemophilia B (sixth edition): a database of point mutations and short additions and deletions
F Giannelli1, P M Green, S S Sommer
1Paediatric Research Unit, London, UK.
Insights
The updated haemophilia B database catalogs 1380 factor IX gene mutations found in patients. This resource details mutation locations, factor IX activity, and origins for better understanding of haemophilia B.
Area of Science:
- Hematology
- Human Genetics
- Molecular Biology
Background:
- Haemophilia B is a genetic bleeding disorder caused by mutations in the factor IX gene.
- Accurate and comprehensive databases of these mutations are crucial for research and clinical management.
- Previous editions have established the utility of this database for tracking genetic variations.
Purpose of the Study:
- To present the sixth edition of the haemophilia B database, cataloging known factor IX mutations.
- To provide an easily accessible, ordered compilation of genetic alterations in haemophilia B patients.
- To include associated clinical and genetic data for each mutation.
Main Methods:
- Compilation of published data on factor IX gene mutations from haemophilia B patients.
- Inclusion of mutations resulting from small genetic changes (base substitutions, short insertions/deletions <30 bp).
- Organization of 1380 patient entries by mutation nucleotide number.
Main Results:
- The database contains 1380 patient entries detailing factor IX mutations.
- Entries are systematically ordered by the nucleotide position of the mutation.
- Information on factor IX activity, circulating factor IX antigen levels, and mutation origin is provided where available.
Conclusions:
- The sixth edition offers a comprehensive and organized resource for factor IX mutations in haemophilia B.
- This database facilitates research into genotype-phenotype correlations in haemophilia B.
- It serves as a valuable tool for identifying mutation origins and tracking published findings.
Abstract:
The sixth 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 1380 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 and origin of mutation. References to published mutations are given and the laboratories generating the data are indicated.