Prenatal diagnosis of alpha-1-antitrypsin deficiency by PCR of linked polymorphisms: a study of 17 cases

Prenat Diagn. 1992 Apr;12(4):235-40. doi: 10.1002/pd.1970120402.

Abstract

We describe our experiences of prenatal diagnosis of alpha-1-antitrypsin deficiency using closely linked polymorphisms detected by Southern blotting and the polymerase chain reaction. Prenatal diagnosis was carried out for 17 pregnancies from 15 couples.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Blotting, Southern
  • Chorionic Villi Sampling
  • Exons
  • Female
  • Genetic Linkage
  • Humans
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Pregnancy
  • Prenatal Diagnosis
  • alpha 1-Antitrypsin Deficiency*