HUMAN NEUTRAL ALPHA-GLUCOSIDASE-C - GENETIC-POLYMORPHISM INCLUDING A NULL ALLELE

  • 1 January 1980
    • journal article
    • research article
    • Vol. 32  (4) , 497-507
Abstract
A genetic polymorphism of human neutral .alpha.-glucosidase C, detected in lymphoid cells by a combination of starch gel electrophoresis and isoelectric focusing, is described. The 7 phenotypes observed appear to result from the expression of 4 different alleles. The distribution of the observed phenotypes fits the expected distribution predicted from calculated gene frequencies in Hardy-Weinberg equilibrium. Family studies are consistent with autosomal inheritance of the gene. The product of 1 of the alleles is unusual in that it is silent, with an estimated gene frequency of 0.174 in an outbred white population. Approximately 1/3 of the population is heterozygous null. Homozygosity for the allele has not been associated with any obvious disease state. This is the 3rd example of a null allele, which has a substantial gene frequency in an outbred population, but does not appear to result in disease in the homozygous state.