| Autor: |
M, Rios, A, Chaudhuri, G, Mallinson, L, Sausais, A E, Gomensoro-Garcia, J, Hannon, S, Rosenberger, J, Poole, G, Burgess, O, Pogo, M, Reid |
| Rok vydání: |
2000 |
| Předmět: |
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| Zdroj: |
British journal of haematology. 108(2) |
| ISSN: |
0007-1048 |
| Popis: |
Duffy blood group antigens are carried on a glycoprotein that is predicted to pass through the erythrocyte membrane seven times and is a promiscuous chemokine receptor. The Fy(a- b-) phenotype is present in two-thirds of African-American Blacks but is rare in Caucasians. In Blacks, the phenotype is due to a non-functional GATA-1 motif in the FY B, which silences the gene in erythrocytes but not in other tissues, and these patients do not generally make anti-Fyb or anti-Fy3. We describe here the molecular analysis of FY in three unrelated Caucasians who were studied because they had strong anti-Fy3 in their serum. Each was found to have a point mutation that was predicted to change a tryptophan to a premature stop codon in the coding sequence. In one patient (patient 1), the nonsense mutation was at nucleotide 287 of the major transcript in FY A; in another (patient 2), it was at nucleotide 407 in the major transcript of FY B; and in a third (patient 3), it was at nucleotide 408 of the major transcript of FY A. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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