The Malmo polymorphism of coagulation factor IX, an immunologic polymorphism due to dimorphism of residue 148 that is in linkage disequilibrium with two other F.IX polymorphisms

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A mouse monoclonal antibody (MAB 9,9) to coagulation factor IX (F.IX) detects a polymorphism in the plasma of normal people. Its epitope has been narrowed down to <6 amino acids in the activation peptide of the X-linked F.IX protein. The activation peptide contains a dimorphism - Thr:Ala - at position 148 of the protein. Using synthetic oligonucleotides, we have demonstrated that (1) the F.IX which reacts with 9.9 has Thr at position 148 and (2) that which does not has Ala. Positive reactors (148(thr)) are designated Malmo A, and negative reactors (148(ala)) are designated Malmo B. The plasma levels of AA women are indistinguishable from those of A men, and both B men and BB women are null against MAB 9.9. The plasma level of Malmo A in AB women is approximately half that of AA women, and 'lyonization' is clearly operating in the heterozygotes. The dimorphism is in strong linkage disequilibrium with two other intragenic RFLPs, TaqI and XmnI. Furthermore, intragenic crossing-over - including double crossing-over - appears to have occurred between the three sites. Seven of the eight possible haplotypes have been identified, five in men and two others in women. The immunoassay that identifies ~50% of the AB women in the pool of Malmo A females with 95% confidence identifies men unambiguously as A or B. The assay would be very useful for population-genetic studies of the Malmo epitope if the studies were limited to men.

Lubahn, D. B.University of North Carolina (author)
Lord, S. T.University of North Carolina (author)
Kirshtein, J.University of North Carolina (author)
Nilsson, Inga Marie (author)
Wallmark, A.Lund University,Lunds universitet,Internmedicin - epidemiologi,Forskargrupper vid Lunds universitet,Internal Medicine - Epidemiology,Lund University Research Groups(Swepub:lu)med-awm (author)
Ljung, R.Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Pediatrisk hematologi,Forskargrupper vid Lunds universitet,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Paediatric Haematology Research Unit,Lund University Research Groups(Swepub:lu)pedi-rlj (author)
Frazier, L. D.University of North Carolina (author)
Ware, J. L.University of North Carolina (author)
Wah Lin, S.University of North Carolina (author)
Stafford, D. W.University of North Carolina (author)
Bosco, J.University of North Carolina (author)
University of North CarolinaInternmedicin - epidemiologi (creator_code:org_t)

By the author/editor: Graham, J. B.; Lubahn, D. B.; Lord, S. T.; Kirshtein, J.; Nilsson, Inga Ma ...; Wallmark, A.; show more...; Ljung, R.; Frazier, L. D.; Ware, J. L.; Wah Lin, S.; Stafford, D. W.; Bosco, J.; show less...

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