Segregation within a family of two mutant alleles for hexosaminidase A

Publisher Website
Google Scholar
Abstract
A healthy adult female had low levels of hexosaminidase A in serum, leukocytes and fibroblasts when these were assayed with artificial substrates. Fibroblast assay with GM2 ganglioside gave values consistent with a Tay-Sachs heterozygote. Studies of this non-Jewish family revealed evidence for segregation of 2 mutant alleles for hexosaminidase A.