A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient

Hum Genet. 1992 Nov;90(3):247-50. doi: 10.1007/BF00220071.

Abstract

We have studied, by the polymerase chain reaction, the beta-galactosidase cDNA from several Italian patients with infantile GM1-gangliosidosis. One homozygote for a previously undiscovered G > A mutation at position 1479, causing an arginine to histidine change, was detected. The same mutation, in heterozygosis, was identified in 6 unrelated patients, but not in 100 normal chromosomes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arginine / genetics*
  • Base Sequence
  • DNA Mutational Analysis
  • DNA, Single-Stranded
  • Gangliosidosis, GM1 / genetics*
  • Histidine / genetics*
  • Homozygote*
  • Humans
  • Infant
  • Molecular Sequence Data
  • Point Mutation*
  • Polymerase Chain Reaction
  • RNA, Messenger / genetics
  • beta-Galactosidase / genetics*

Substances

  • DNA, Single-Stranded
  • RNA, Messenger
  • Histidine
  • Arginine
  • beta-Galactosidase