Prenatal diagnosis of hereditary amyloidosis in a Portuguese family

M. Morris, W. Nichols, M. Benson

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

Portuguese-type amyloidosis is an autosomal dominant condition caused by a point mutation of the prealbumin (transthyretin) gene. The mutation can be detected directly by the presence of a restriction site for Nsi1. We report the first prenatal diagnosis for this condition, performed in the first trimester by chorionic villus sampling, polymerase chain reaction, and restriction enzyme digestion.

Original languageEnglish (US)
Pages (from-to)123-124
Number of pages2
JournalAmerican journal of medical genetics
Volume39
Issue number1
DOIs
StatePublished - Jan 1 1991
Externally publishedYes

Keywords

  • amyloidosis
  • chorionic villus sampling
  • familial amyloidotic polyneuropathy
  • polymerase chain reaction
  • prealbumin
  • prenatal diagnosis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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