Study of the molecular defects in pyruvate kinase deficient patients affected by nonspherocytic hemolytic anemia.
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| Abstract |
We have examined DNA from fifteen unrelated pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia (HNSHA) for the molecular alterations responsible for the enzyme deficiency. All but 3 of the 30 putative mutations were identified. Fourteen different mutations were found. Nine were missense mutations: 320 T-->C, 823 G-->C, 1276 C-->T, 1378 G-->A, 1484 C-->T, 1529 G-->A, 1654 G-->A, 1675 C-->G; three were nonsense mutations: 603 G-->A, 721 G-->T, 1501 C-->T; one was an insertion at 1574 GGG-->GGGG and the other a three nucleotide in-frame deletion 391-392-393 ATC. Eight of these mutations have not been previously described. We also investigated all of the patients for the C/A polymorphism at nt 1705 and the microsatellite ATT repeat in intron 11. All of the mutations that had previously been reported by us (391-393del, 721T, 1484T, 1529A) were found in the context of the same haplotype as the earlier cases, supporting the concept that each may have a single origin.
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| Authors | L Baronciani, I Q Magalhães, D H Mahoney Jr, B Westwood, A D Adekile, T R Lappin, E Beutler |
| Journal | Blood cells, molecules & diseases (Blood Cells Mol Dis) Vol. 21 Issue 1 Pg. 49-55 ( 1995) ISSN: 1079-9796 [Print] United States |
| PMID | 7655861 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.) |
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