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This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Parasol, N. Articles by Kosower, N. S. Search for Related Content PubMed PubMed Citation Articles by Parasol, N. Articles by Kosower, N. S. Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, Vol. 92 No. 7 (October 1), 1998: pp. 2237-2243 A Novel Mutation in the Coding Sequence of the FY*B Allele of the Duffy Chemokine Receptor Gene Is Associated With an Altered Erythrocyte Phenotype Niva Parasol, Marion Reid, Maria Rios, Lilian Castilho, Ilana Harari, and Nechama S. Kosower From the Department of Human Genetics, Sackler School of Medicine, Tel-Aviv University, Tel Aviv, Israel; the Department of Molecular Genotyping, New York Blood Center, New York, NY; and the Blood Services Center, Magen David Adom, Tel-Hashomer, Israel. The Duffy blood group system is of clinical and biological significance. Antibodies to Duffy antigens are responsible for some cases of transfusion incompatibility and newborn hemolytic disease. The Duffy protein is a receptor for the Plasmodium vivax erythrocyte-binding protein and is also a receptor for various chemokines (thus renamed Duffy Antigen Receptor for Chemokines [DARC]). The two Duffy polymorphic antigens, Fya and Fyb (coded by the FY*A and FY*B alleles), are present on erythrocyte membranes. The Fy(ab) phenotype is the predominant one in populations of black people and also occurs in other populations, including some non-Ashkenazi Jewish groups. The Fy(ab) phenotype has been associated with a mutation in the FY*B promoter at the GATA box that abolishes the expression of erythrocyte Duffy protein. We describe here a novel mutation, present in the FY*B coding sequence (271C  T), that is associated with some Fy(b) phenotypes among non-Ashkenazi Jews and among Brazilian blacks. The mutation is present in Fy(b) individuals, who have wild-type FY*B GATA and carry the previously described 304G  A substitution. The 271C  T and 304G  A can be identified by restriction enzyme-generated restriction fragment length polymorphisms. The 271C  T substitution represents a considerable change in chemical nature (Arg91  Cys), one which may affect the antigenic determinants of DARC, and thus be of clinical significance. The mutation may have implications for some physiological roles of DARC and be of interest in malaria research and in studies of population genetics. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: J. S. Lee, C. W. Frevert, D. R. Thorning, S. Segerer, C. E. Alpers, J.-P. Cartron, Y. Colin, V. A. Wong, T. R. Martin, and R. B. Goodman Enhanced Expression of Duffy Antigen in the Lungs During Suppurative Pneumonia J. Histochem. Cytochem., February 1, 2003; 51(2): 159 - 166. [Abstract] [Full Text] [PDF]

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