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LM Davis, RA McGraw, JL Ware, HR Roberts and DW Stafford
Factor IXAlabama is a variant factor IX molecule responsible for a
clinically moderate form of hemophilia B. Twenty-five kilobases (kb) of the
variant gene, including seven exons coding for the structural protein, were
cloned and characterized. The restriction map and the arrangement of coding
regions are identical to those of the normal gene. DNA sequence analysis of
the coding regions revealed a single base-pair difference between the gene
for factor IXAlabama and the normal factor IX gene. An adenine to guanine
transition in the first nucleotide of exon d causes the substitution of a
glycine codon (GGT) for the normal aspartic acid codon (GAT). This point
mutation results in a single amino acid substitution at residue 47 of the
zymogen and represents the genetic defect in factor IXAlabama.
This article has been cited by other articles:
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| Copyright © 1987 by American Society of Hematology Online ISSN: 1528-0020 | |||||||||
