A second BamHI DNA polymorphism and haplotype association in the factor IX
gene
MC Driscoll, A Dispenzieri, E Tobias, CH Miller and LM Aledort
Department of Pediatrics, Mount Sinai School of Medicine, NY.
A second BamHI DNA polymorphism has been identified in the factor IX gene
in an American black population at an allelic frequency of 0.13. This site
has been localized within 500 basepairs (bp) 5' to the XmnI intron 3
polymorphic site and increases the heterozygosity of black females at the
factor IX gene locus. In addition, haplotype analysis of factor IX genes at
five polymorphic loci indicates that although there is conservation of
sequences between the races, factor IX genes show more heterogeneity in an
American black population and thus more heterozygosity is observed in black
females compared with whites. This increased heterogeneity is due to DNA
polymorphisms unique to black populations and to linkage equilibrium
between the most 5' and 3' polymorphic sites in factor IX genes in blacks.
Volume 72,
Issue 1,
pp. 61-65,
07/01/1988
Copyright © 1988 by The American Society of Hematology
