Human factor IXLincoln Park: a molecular characterization. Mol Cell Probes 1990 Oct;4(5):335-40
Date
10/01/1990Pubmed ID
1980717DOI
10.1016/0890-8508(90)90024-tScopus ID
2-s2.0-0025504314 (requires institutional sign-in at Scopus site) 5 CitationsAbstract
Using genomic DNA prepared from peripheral blood samples of a patient with factor IX deficiency, all eight exons as well as sequences around the splice junctions and putative promoter region of human factor IX DNA have been subjected to polymerase chain reaction (PCR) amplification and sequenced. Comparison of these sequences with normal factor IX gene sequences revealed an insertion in exon VIII that resulted in the alteration of 11 amino acids and the addition of 23 amino acids, all at the carboxy terminal of factor IX. This insertion destroys an Msp I restriction site; carrier detection and antenatal diagnosis in affected kindreds can be performed by testing for the absence of this site. This is the first characterization of a mutation in which insertion in the carboxy terminal region of factor IX causes factor IX deficiency. The genetic change in factor IX in this patient is called Factor IXLincoln Park.
Author List
Rao KJ, Lyman G, Hamsbhushanam K, Scott JP, Jagadeeswaran PMESH terms used to index this publication - Major topics in bold
Amino Acid SequenceBase Sequence
DNA Mutational Analysis
Exons
Factor IX
Female
Frameshift Mutation
Hemophilia B
Humans
Male
Molecular Sequence Data
Polymorphism, Restriction Fragment Length