| Literature DB >> 3476458 |
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.Entities:
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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