Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia.

Article Details

Citation

Baronciani L, Beutler E

Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia.

Proc Natl Acad Sci U S A. 1993 May 1;90(9):4324-7.

PubMed ID
8483951 [ View in PubMed
]
Abstract

The intron sequences of the human L-type pyruvate kinase gene (PKLR) were determined by using primers selected from the known cDNA sequence. Oligonucleotide primers for these determined intron sequences were used to sequence the exons. When this technique was applied to the DNA of 10 unrelated patients with pyruvate kinase deficiency, the following eight different mutations in the coding region were detected: del391-393, A401, C464, G721, A1076, T1456, T1484, A1529. The A1529 mutation was found repeatedly in unrelated individuals, even in the homozygous state. The context with respect to a polymorphism at nt 1705 was compatible with a single origin for this mutation, and it may represent a balanced polymorphism. In normal subjects, five differences from the published cDNA sequence were documented.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Pyruvate kinase PKLRP30613Details