Literature DB >> 3476458

PGI*3(Israel), a new, unstable allele in the phosphoglucose isomerase system.

B Bonné-Tamir, S S Papiha, S Ashbel, F Brok-Simoni, G Kende, B Ramot.   

Abstract

Phosphoglucose isomerase (PGI) and 16 other biochemical genetic markers were studied in an Israeli-Arab family previously described for hereditary deficiency of adenylate kinase (AK) and glucose 6-phosphate dehydrogenase (G6PD). In this inbred family a rare PGI*3 allele was observed in 11 of 32 members tested, indicating an autosomal codominant inheritance. The electrophoretic mobility of this allele is similar to that of the PGI*3 allele found in Indian populations, but unlike the Indian allele, it has a very low specific activity and heat stability. This PGI*3 allele, designated PGI*3 (Israel), seems to be a different unstable mutation and along with AK and G6PD deficiencies seems to be associated with severe anaemia.

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Year:  1987        PMID: 3476458     DOI: 10.1007/BF00284718

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  17 in total

Review 1.  Analysis of genetic data on Jewish populations. I. Historical background, demographic features, and genetic markers.

Authors:  B Bonné-Tamir; S Karlin; R Kenett
Journal:  Am J Hum Genet       Date:  1979-05       Impact factor: 11.025

2.  A rare homozygous form of phosphohexose isomerase.

Authors:  S S Papiha; D F Roberts; B C Chhaparwal
Journal:  Am J Hum Genet       Date:  1974-07       Impact factor: 11.025

3.  The distribution of serum protein and enzyme group systems among North Indians.

Authors:  N M Blake; R L Kirk; E M McDermid; K Omoto; Y R Ahuja
Journal:  Hum Hered       Date:  1971       Impact factor: 0.444

4.  Inherited variations in human phosphohexose isomerase.

Authors:  J C Detter; P O Ways; E R Giblett; M A Baughan; D A Hopkinson; S Povey; H Harris
Journal:  Ann Hum Genet       Date:  1968-05       Impact factor: 1.670

5.  Occurrence of defective hexosephosphate isomerization in human erythrocytes and leukocytes.

Authors:  D E Paglia; P Holland; M A Baughan; W N Valentine
Journal:  N Engl J Med       Date:  1969-01-09       Impact factor: 91.245

6.  Combined glucosephosphate isomerase and glucose-6-phosphate dehydrogenase deficiency of the erythrocytes: a new haemolytic syndrome.

Authors:  W Schröter; G Brittinger; E Zimmerschmitt; E König; D Schrader
Journal:  Br J Haematol       Date:  1971-03       Impact factor: 6.998

7.  Ethnic communities in Israel: the genetic blood markers of the Babylonian Jews.

Authors:  B Bonné-Tamir; S Ashbel; S Bar-Shani
Journal:  Am J Phys Anthropol       Date:  1978-11       Impact factor: 2.868

8.  Hereditary deficiency of adenylate kinase in red blood cell.

Authors:  A Szeinberg; D Kahana; S Gavendo; J Zaidman; J Ben-Ezzer
Journal:  Acta Haematol       Date:  1969       Impact factor: 2.195

9.  Electrophoretic and kinetic studies of glucosephosphate isomerase (GPI) in two different Japanese families with GPI deficiency.

Authors:  K Nakashima; S Miwa; S Oda; E Oda; N Matsumoto
Journal:  Am J Hum Genet       Date:  1973-05       Impact factor: 11.025

10.  Characterization of two new variants of glucose-phosphate-isomerase deficiency with hereditary nonspherocytic hemolytic anemia.

Authors:  K G Blume; W Hryniuk; D Powars; F Trinidad; C West; E Beutler
Journal:  J Lab Clin Med       Date:  1972-06
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  2 in total

1.  GPI Mount Scopus--a variant of glucosephosphate isomerase deficiency.

Authors:  O Shalev; R S Shalev; L Forman; E Beutler
Journal:  Ann Hematol       Date:  1993-10       Impact factor: 3.673

2.  Phosphohexose isomerase in hypernephroma. Significance as serum tumor marker, comparison to other glycolytic enzymes and isozyme patterns in normal and tumor tissue.

Authors:  M Baumann; T Lang; K Brand
Journal:  Urol Res       Date:  1988
  2 in total

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