PGI*3(Israel), a new, unstable allele in the phosphoglucose isomerase system
✍ Scribed by B. Bonné-Tamir; S. S. Papiha; S. Ashbel; F. Brok-Simoni; G. Kende; B. Ramot
- Book ID
- 104704605
- Publisher
- Springer
- Year
- 1987
- Tongue
- English
- Weight
- 431 KB
- Volume
- 77
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
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.