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Inherited variations in human phosphohexose isomerase

Inherited variations in human phosphohexose isomerase SUMMARY 1. The elctrophoretic pattern of phosphohexose isomerase has been examine in the blood of 3397 unrelated individuals from several different populations groups. 2. Eight variant phenotypes were identinfied and these were designated PHI 2‐1, 3‐1, 4‐1, 5‐11 6‐1, 7‐1, 8‐1, 9‐1. All of these were rare in the populations studied except the variant designated PHI 3‐1, which was observed with a frequency of about 1% in a mixed population of Asiatic Indians. 3. Studies of selected families indicated that the variants occured in individuals who are heterozygous for one or another of a series of rare alleles at an autosomal locus. 4. Studies on the family of a patient that the patient was heterozygous for two different rare alleles at the PHI locus, each associated with reduced PHI activity. The patinet's mother showed the PHI 9‐1 phenotype and his father showed a new phenotype designated PHI 10‐1. The patient's phenotype has been designeated PHI 9‐10. 5. The enzyme appears to be a dimer and in heterozygotes isozymes of hybrid submit compostion as well as isozymes of like subunit compostion are apparently formed. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annals of Human Genetics Wiley

Inherited variations in human phosphohexose isomerase

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References (20)

Publisher
Wiley
Copyright
Copyright © 1968 Wiley Subscription Services, Inc., A Wiley Company
ISSN
0003-4800
eISSN
1469-1809
DOI
10.1111/j.1469-1809.1968.tb00565.x
Publisher site
See Article on Publisher Site

Abstract

SUMMARY 1. The elctrophoretic pattern of phosphohexose isomerase has been examine in the blood of 3397 unrelated individuals from several different populations groups. 2. Eight variant phenotypes were identinfied and these were designated PHI 2‐1, 3‐1, 4‐1, 5‐11 6‐1, 7‐1, 8‐1, 9‐1. All of these were rare in the populations studied except the variant designated PHI 3‐1, which was observed with a frequency of about 1% in a mixed population of Asiatic Indians. 3. Studies of selected families indicated that the variants occured in individuals who are heterozygous for one or another of a series of rare alleles at an autosomal locus. 4. Studies on the family of a patient that the patient was heterozygous for two different rare alleles at the PHI locus, each associated with reduced PHI activity. The patinet's mother showed the PHI 9‐1 phenotype and his father showed a new phenotype designated PHI 10‐1. The patient's phenotype has been designeated PHI 9‐10. 5. The enzyme appears to be a dimer and in heterozygotes isozymes of hybrid submit compostion as well as isozymes of like subunit compostion are apparently formed.

Journal

Annals of Human Genetics – Wiley

Published: May 1, 1968

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