A new test for detection ot the his 58 variant transthyretin allele in hereditary amyloidosis; creation of diagnostic restriction endonuclease recognition sites by PCR based mutagenesis

Steven R. Zeldenrust, Merrill Benson

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

A new test has been developed to detect the His 58 variant transthyretin allele associated with familial amyloidotic polyneuropathy type II in the Maryland/German kindreds. Since the point mutation identified in this disease does not alter the restriction pattern of the TTR gene, previous DNA testing had been accomplished through the use ofallele-specific amplification. In order to increase the accuracy of the testing process and allow detection of individuals homozygous for the mutation, an alternative technique utilizing polymerase chain reaction-mediated site-directed mutagenesis has been developed to produce a unique restriction site in the PCR product derived from the His 58 variant allele. This method, which we have termed PCR-In-duced Mutation Restriction Analysis (PCR-IMRA), maybe applied to the detection of nearly all single base changes in genomic DNA which fail to produce a restriction fragment length polymorphism. A strategy for devising diagnostic tests by this method is presented.

Original languageEnglish (US)
Pages (from-to)154-159
Number of pages6
JournalAmyloid
Volume1
Issue number3
DOIs
StatePublished - 1994

Fingerprint

Familial Amyloidosis
Prealbumin
DNA Restriction Enzymes
Mutagenesis
Alleles
Polymerase Chain Reaction
Mutation
Polyneuropathies
DNA
Site-Directed Mutagenesis
Point Mutation
Routine Diagnostic Tests
Restriction Fragment Length Polymorphisms
Genes

Keywords

  • Amyloidosis
  • Polymerase chain reaction (Pcr)-Mutagenesis
  • Transthyretin

ASJC Scopus subject areas

  • Internal Medicine
  • Medicine(all)
  • Pathology and Forensic Medicine

Cite this

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title = "A new test for detection ot the his 58 variant transthyretin allele in hereditary amyloidosis; creation of diagnostic restriction endonuclease recognition sites by PCR based mutagenesis",
abstract = "A new test has been developed to detect the His 58 variant transthyretin allele associated with familial amyloidotic polyneuropathy type II in the Maryland/German kindreds. Since the point mutation identified in this disease does not alter the restriction pattern of the TTR gene, previous DNA testing had been accomplished through the use ofallele-specific amplification. In order to increase the accuracy of the testing process and allow detection of individuals homozygous for the mutation, an alternative technique utilizing polymerase chain reaction-mediated site-directed mutagenesis has been developed to produce a unique restriction site in the PCR product derived from the His 58 variant allele. This method, which we have termed PCR-In-duced Mutation Restriction Analysis (PCR-IMRA), maybe applied to the detection of nearly all single base changes in genomic DNA which fail to produce a restriction fragment length polymorphism. A strategy for devising diagnostic tests by this method is presented.",
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N2 - A new test has been developed to detect the His 58 variant transthyretin allele associated with familial amyloidotic polyneuropathy type II in the Maryland/German kindreds. Since the point mutation identified in this disease does not alter the restriction pattern of the TTR gene, previous DNA testing had been accomplished through the use ofallele-specific amplification. In order to increase the accuracy of the testing process and allow detection of individuals homozygous for the mutation, an alternative technique utilizing polymerase chain reaction-mediated site-directed mutagenesis has been developed to produce a unique restriction site in the PCR product derived from the His 58 variant allele. This method, which we have termed PCR-In-duced Mutation Restriction Analysis (PCR-IMRA), maybe applied to the detection of nearly all single base changes in genomic DNA which fail to produce a restriction fragment length polymorphism. A strategy for devising diagnostic tests by this method is presented.

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