Hereditary amyloidosis

Detection of variant prealbumin genes by restriction enzyme analysis of amplified genomic DNA sequences

W. C. Nichols, Merrill Benson

Research output: Contribution to journalArticle

43 Citations (Scopus)

Abstract

The autosomal dominant prealbumin amyloides are late-onset disorders characterized by varying degrees of peripheral neuropathy, nephropathy and cardiomyopathy. To date, seven different single amino acid mutations in the plasma protein prealbumin (transthyretin) have been found to be associated with amyloidosis and each is the result of a single nucleotide change in the prealbumin gene. By virtue of the restriction endonuclease sites created by the point mutations which give rise to the protein variants, direct DNA tests using Southern analysis have already been developed for detection of the Met-30, Ile-33, Ala-60, Tyr-77 and Ser-84 prealbumin genes. As an alternative to Southern analysis, we have amplified discrete regions of the prealbumin gene using polymerase chain reaction (PCR) and used retriction enzyme analysis of the PCR products to detect the Met-30, Ala-60, Tyr-77 and Ser-84 prealbumin genes after agarose gel electrophoresis and staining with ethidium bromide. In comparison to Southern analysis these alternative tests yield results much more quickly and avoid the use and handling of radioactively labeled probes.

Original languageEnglish
Pages (from-to)44-53
Number of pages10
JournalClinical Genetics
Volume37
Issue number1
StatePublished - 1990

Fingerprint

Familial Amyloidosis
Restriction Mapping
Prealbumin
Genes
Polymerase Chain Reaction
Ethidium
Agar Gel Electrophoresis
DNA Restriction Enzymes
Peripheral Nervous System Diseases
Amyloidosis
Cardiomyopathies
Point Mutation
Blood Proteins
Nucleotides
Staining and Labeling
Amino Acids
Mutation
DNA

Keywords

  • Hereditary amyloidosis
  • Polymerase chain reaction
  • Prealbumin
  • Restriction enzyme analysis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

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abstract = "The autosomal dominant prealbumin amyloides are late-onset disorders characterized by varying degrees of peripheral neuropathy, nephropathy and cardiomyopathy. To date, seven different single amino acid mutations in the plasma protein prealbumin (transthyretin) have been found to be associated with amyloidosis and each is the result of a single nucleotide change in the prealbumin gene. By virtue of the restriction endonuclease sites created by the point mutations which give rise to the protein variants, direct DNA tests using Southern analysis have already been developed for detection of the Met-30, Ile-33, Ala-60, Tyr-77 and Ser-84 prealbumin genes. As an alternative to Southern analysis, we have amplified discrete regions of the prealbumin gene using polymerase chain reaction (PCR) and used retriction enzyme analysis of the PCR products to detect the Met-30, Ala-60, Tyr-77 and Ser-84 prealbumin genes after agarose gel electrophoresis and staining with ethidium bromide. In comparison to Southern analysis these alternative tests yield results much more quickly and avoid the use and handling of radioactively labeled probes.",
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