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
| Autor: | N, Parasol, M, Reid, M, Rios, L, Castilho, I, Harari, N S, Kosower |
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| Rok vydání: | 1998 |
| Předmět: |
DNA Mutational Analysis
Immunology Protozoan Proteins Black People Antigens Protozoan Receptors Cell Surface Biochemistry Gene Frequency Agglutination Tests Malaria Vivax Animals Humans Point Mutation Alleles Binding Sites Erythrocyte Membrane Cell Biology Hematology DNA-Binding Proteins Phenotype Gene Expression Regulation Jews Erythroid-Specific DNA-Binding Factors Disease Susceptibility Carrier Proteins Duffy Blood-Group System Plasmodium vivax Brazil Polymorphism Restriction Fragment Length Transcription Factors |
| Zdroj: | Blood. 92:2237-2243 |
| ISSN: | 1528-0020 0006-4971 |
| DOI: | 10.1182/blood.v92.7.2237.2237_2237_2243 |
| Popis: | 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 vivaxerythrocyte-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(a−b−) phenotype is the predominant one in populations of black people and also occurs in other populations, including some non-Ashkenazi Jewish groups. The Fy(a−b−) 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. |
| Databáze: | OpenAIRE |
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