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Compound heterozygous mutations affecting both hepatic and erythrocyte isozymes of pyruvate kinase.

Abstract：

:Novel erythrocyte pyruvate kinase gene defects were found in a patient without a family history of consanguinity. The polymerase chain reaction products of the R-type pyruvate kinase cDNA from the propositus contained two point mutations of Ser80 (TCC)-->Pro (CCC) and Arg490 (CGG)-->Trp (TGG). Allele-specific polymerase chain reaction of the genomic DNA revealed that this patient was a compound heterozygote. The mobilities of the patient's L- and R-type pyruvate kinase by thin-layer polyacrylamide gel electrophoresis were abnormal. The results are consistent with the fact that these mutations are within exons common to the hepatic and erythrocyte isozymes.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Uenaka R,Nakajima H,Noguchi T,Imamura K,Hamaguchi T,Tomita K,Yamada K,Kuwajima M,Kono N,Tanaka T

doi

10.1006/bbrc.1995.1432

subject

Has Abstract,Author List Incomplete

pub_date

1995-03-28 00:00:00

pages

991-8

issue

3

eissn

0006-291X

issn

1090-2104

pii

S0006291X85714325

journal_volume

208

pub_type

杂志文章

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