Human Neutral Alpha-glucosidase C: Genetic Polymorphism Including a "null" Allele

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1980 Jul 1

PMID 6994494

Citations 3

Authors

F Martiniuk

R Hirschhorn

Affiliations

Soon will be listed here.

Abstract

We describe a genetic polymorphism of human neutral alpha-glucosidase C, detected in lymphoid cells by a combination of starch gel electrophoresis and isoelectric focusing. The seven phenotypes observed appear to result from the expression of four 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 one of the alleles is unusual in that it is "silent," with an estimated gene frequency of .174 in an outbred white population. Approximately one-third of the population is heterozygous "null." Homozygosity for the allele has not been associated with any obvious disease state. This is the third 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.

Citing Articles

Computer assisted cloning of human neutral alpha-glucosidase C (GANC): a new paralog in the glycosyl hydrolase gene family 31.

Hirschhorn R, Huie M, Kasper J Proc Natl Acad Sci U S A. 2002; 99(21):13642-6.

PMID: 12370436 PMC: 129728. DOI: 10.1073/pnas.202383599.

Genetic heterogeneity in partial adenosine deaminase deficiency.

Hirschhorn R, Martiniuk F, Ellenbogen A, Perignon J, Jenkins T J Clin Invest. 1983; 71(6):1887-92.

PMID: 6863546 PMC: 370394. DOI: 10.1172/jci110944.

Hair root analysis in X-linked ichthyosis.

DANCIS J, Jansen V, HUTZLER J J Inherit Metab Dis. 1983; 6(4):173-7.

PMID: 6422158 DOI: 10.1007/BF02310876.

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