Detection of a new mutant alpha-1-antichymotrypsin in patients with occlusive-cerebrovascular disease

FEBS Lett. 1992 Jun 8;304(1):66-8. doi: 10.1016/0014-5793(92)80590-d.

Abstract

A new mutant alpha-1-antichymotrypsin (variant ACT) was found by direct sequencing and PCR-single strand conformation polymorphism (PCR-SSCP). This variant ACT was a point mutation of exon V of ACT, with the substitution of Met by Val. Four out of six individuals with this variant ACT had occlusive-cerebrovascular disease, leading to one hypothesis that there might be an association between this mutation and occlusive-cerebrovascular disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cerebrovascular Circulation
  • Cerebrovascular Disorders / enzymology*
  • DNA
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Polymerase Chain Reaction
  • alpha 1-Antichymotrypsin / genetics*
  • alpha 1-Antichymotrypsin / metabolism

Substances

  • alpha 1-Antichymotrypsin
  • DNA