Abstract:
: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.
journal_name
Bloodjournal_title
Bloodauthors
Davis LM,McGraw RA,Ware JL,Roberts HR,Stafford DWsubject
Has Abstractpub_date
1987-01-01 00:00:00pages
140-3issue
1eissn
0006-4971issn
1528-0020journal_volume
69pub_type
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