Prenatal diagnosis of hereditary amyloidosis in a Portuguese family

M. Morris, W. Nichols, Merrill Benson

Research output: Contribution to journalArticle

7 Citations (Scopus)

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
StatePublished - 1991
Externally publishedYes

Fingerprint

Familial Amyloidosis
Prealbumin
Prenatal Diagnosis
Chorionic Villi Sampling
Amyloidosis
First Pregnancy Trimester
Point Mutation
Digestion
Polymerase Chain Reaction
Mutation
Enzymes
Genes

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Prenatal diagnosis of hereditary amyloidosis in a Portuguese family. / Morris, M.; Nichols, W.; Benson, Merrill.

In: American Journal of Medical Genetics, Vol. 39, No. 1, 1991, p. 123-124.

Research output: Contribution to journalArticle

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