Partial deletion of human alpha-galactosidase A gene in Fabry disease: direct repeat sequences as a possible cause of slipped mispairing

Biochem Biophys Res Commun. 1990 Jul 16;170(1):296-300. doi: 10.1016/0006-291x(90)91273-u.

Abstract

A partial deletion involving exon 3 associated with a single base change (A to C) was found in the alpha-galactosidase A gene of a hemizygous male Fabry patient and his mother, a heterozygous proband. This 402-bp deletion was flanked by 6-bp direct repeat sequences, and the intervening portion was found to have unique complementary sequences. These specific structures may have promoted "slipped mispairing" in this family.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Chromosome Deletion*
  • DNA / analysis*
  • Fabry Disease / genetics*
  • Female
  • Galactosidases / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Nucleic Acid Conformation*
  • Polymerase Chain Reaction
  • Repetitive Sequences, Nucleic Acid*
  • alpha-Galactosidase / genetics*

Substances

  • DNA
  • Galactosidases
  • alpha-Galactosidase