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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Study of the molecular defects in pyruvate kinase deficient patients affected by nonspherocytic hemolytic anemia
Blood Cells, Molecules, and Diseases, Volume 21, No. 1, Year 1995
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Description
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, 1376 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 CIA 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. © 1995 by Academic Press, Inc.
Authors & Co-Authors
Baronciani, L.
United States, San Diego
Scripps Research Institute
Italy, Milan
Fondazione Irccs Ca' Granda Ospedale Maggiore Policlinico
Magalhaes, I. Q.
Brazil, Brasilia
Hospital de Base do Distrito Federal
Mahony, D. H.
United States, Houston
Texas Children's Hospital
Westwood, B.
United States, San Diego
Scripps Research Institute
Adekile, Adekunle D.
Kuwait, Kuwait City
Kuwait University
Lappin, T. R.J.
United Kingdom, Belfast
Royal Victoria Hospital Belfast
Beutler, Ernest
United States, San Diego
Scripps Research Institute
Statistics
Citations: 29
Authors: 7
Affiliations: 6
Identifiers
Doi:
10.1006/bcmd.1995.0008
ISSN:
10799796
Research Areas
Genetics And Genomics