Mutations at arginine residues in two Asian hemophilia B patients

• Published in: Nucleic acids research Vol. 18; no. 7; p. 1924
• Main Authors: BOTTEMA, C. D. K, KETTERLING, R. P, KOEBERL, D. D, TAYLOR, S. A, SOMMER, S. S
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 11.04.1990
• Subjects: Arginine; Asia; Biological and medical sciences; coagulation factor IX; Codon - genetics; Factor X - genetics; genes; Hematologic and hematopoietic diseases; Hemophilia A - genetics; Humans; Medical sciences; Mutation; Platelet diseases and coagulopathies; Polymorphism, Restriction Fragment Length; Asia; Human; Polymerase chain reaction; Point mutation; Hemophilia B; Hemopathy; Nucleotide transition; Coagulopathy
• ISSN: 0305-1048; 1362-4962
• DOI: 10.1093/nar/18.7.1924

Defects in the factor IX gene which cause hemophilia B can be delineated by direct sequencing methods. We have used one such method, genomic amplification with transcript sequencing (GAWTS), to sequence the factor IX gene in a Chinese and an Indian patient (HB56 and HB60, respectively) with severe hemophilia B. The regions sequenced were those anticipated to be of functional significance including the coding regions, exon-intron splice junctions, the putative promoter, the 5' untranslated region and portions of the 3' untranslated region. Restriction fragment length polymorphism (RFLP) analysis was uninformative for carrier testing in the families of these two patients as all the haplotypes were TaqI(-), HinfI(-), Xmnl(-), Malmo(thr). The lack of informative intragenic polymorphisms is common for hemophilia B, particularly in non-Caucasian families.