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Human factor IXLincoln Park: a molecular characterization
K J Rao1, G Lyman, K Hamsbhushanam
1Department of Cellular and Structural Biology, University of Texas Health Science Center, San Antonio 78284.
Molecular and Cellular Probes
|October 1, 1990
Summary
Researchers identified a novel insertion mutation in the factor IX gene, termed Factor IX-Lincoln Park, in a patient with factor IX deficiency. This genetic alteration provides a new method for carrier detection and antenatal diagnosis in affected families.
Area of Science:
- Genetics
- Molecular Biology
- Hematology
Background:
- Factor IX deficiency (hemophilia B) is a genetic bleeding disorder.
- Understanding the molecular basis of factor IX deficiency is crucial for diagnosis and treatment.
Purpose of the Study:
- To characterize the genetic mutation responsible for factor IX deficiency in a specific patient.
- To identify potential diagnostic markers for carrier detection and antenatal diagnosis.
Main Methods:
- Polymerase chain reaction (PCR) amplification of all eight exons and surrounding regions of the human factor IX gene.
- DNA sequencing of amplified regions.
- Comparison of patient sequences with normal factor IX gene sequences.
- Analysis of restriction enzyme sites.
Main Results:
- An insertion mutation was identified in exon VIII of the factor IX gene.
- This insertion alters 11 amino acids and adds 23 amino acids at the carboxy terminus.
- The mutation results in the loss of an Msp I restriction site.
- This specific mutation was named Factor IX-Lincoln Park.
Conclusions:
- The identified insertion in the factor IX gene is the cause of factor IX deficiency in this patient.
- The absence of the Msp I restriction site can be used for carrier detection and antenatal diagnosis in families with this mutation.
- This represents the first described mutation involving an insertion in the carboxy-terminal region of factor IX causing deficiency.