Document Detail


The Malmö 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.
MedLine Citation:
PMID:  2450455     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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 less than 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 (148thr) are designated Malmö A, and negative reactors (148ala) are designated Malmö 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 Malmö 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 approximately 50% of the AB women in the pool of Malmö A females with 95% confidence identifies men unambiguously as A or B. The assay would be very useful for population-genetic studies of the Malmö epitope if the studies were limited to men.
Authors:
J B Graham; D B Lubahn; S T Lord; J Kirshtein; I M Nilsson; A Wallmark; R Ljung; L D Frazier; J L Ware; S W Lin
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of human genetics     Volume:  42     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1988 Apr 
Date Detail:
Created Date:  1988-04-20     Completed Date:  1988-04-20     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  573-80     Citation Subset:  IM    
Affiliation:
Univeristy of North Carolina, Chapel Hill.
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MeSH Terms
Descriptor/Qualifier:
Antibodies, Monoclonal
Base Sequence
Epitopes / analysis,  genetics
Factor IX / genetics*,  immunology
Female
Genes
Haplotypes
Humans
Linkage (Genetics)*
Male
Molecular Sequence Data
Polymorphism, Genetic*
Reference Values
Sex Factors
Sweden
Grant Support
ID/Acronym/Agency:
HL-06350/HL/NHLBI NIH HHS; HL-07255/HL/NHLBI NIH HHS; HL-35152/HL/NHLBI NIH HHS
Chemical
Reg. No./Substance:
0/Antibodies, Monoclonal; 0/Epitopes; 9001-28-9/Factor IX
Comments/Corrections

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