title: Human neutral alpha-glucosidase C: genetic polymorphism including a "null" allele.
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.
mesh_terms: D000483:Alleles; D004592:Electrophoresis, Starch Gel; D005787:Gene Frequency; D005838:Genotype; D005959:Glucosidases / Q000235:genetics*; D006801:Humans; D007525:Isoelectric Focusing; D007527:Isoenzymes / Q000235:genetics*; D008214:Lymphocytes / Q000201:enzymology; D010641:Phenotype; D011110:Polymorphism, Genetic; D000520:alpha-Glucosidases / Q000235:genetics*
chemical_list: D007527:Isoenzymes; D005959:Glucosidases; D000520:alpha-Glucosidases