Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A specific test for transthyretin 122 (Val----Ile), based on PCR-primer-introduced restriction analysis (PCR-PIRA): confirmation of the gene frequency in blacks.

American journal of human genetics - 1 Jan 1992

Jacobson D R

Abstract excerpt

The variant transthyretin (TTR) allele, TTR (122 Val----Ile), associated with cardiac amyloidosis in blacks, is caused by a G----A transition which destroys a MaeIII site. This variant has previously been detected by PCR around codon 122, followed by MaeIII digestion, but this test is not specific: any of 12 mutations in the MaeIII recognition site, each of which yields a different amino acid change, would also...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Base Sequence
Share to DNA

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Homozygote

Share to Molecular Sequence Data

Share to Mutation

Share to Polymerase Chain Reaction

Share to Restriction Mapping

Source

Open in PubMed Open full text

Identifiers

PMID: 1729888
PMCID: PMC1682535

Genes

TTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A specific test for transthyretin 122 (Val----Ile), based on PCR-primer-introduced restriction analysis (PCR-PIRA): confirmation of the gene frequency in blacks.PMID 1729888Read ↗

Frequency and genetic background of the position 122 (Val----Ile) variant transthyretin gene in the black population.Semantic proximity Read ↗

Revised transthyretin Ile 122 allele frequency in African-Americans.Semantic proximity Read ↗

Prevalence of the amyloidogenic transthyretin (TTR) V122I allele in 14 333 African-Americans.Semantic proximity Read ↗

Variant-Sequence Transthyretin (Isoleucine 122) in Late-Onset Cardiac Amyloidosis in Black AmericansSemantic proximity Read ↗

A prospective evaluation of the transthyretin Ile122 allele frequency in an African-American population.Semantic proximity Read ↗

Senile cardiac amyloidosis associated with homozygosity for a transthyretin variant (ILE-122).Semantic proximity Read ↗

Molecular diagnosis of the transthyretin (TTR) Met111 mutation in familial amyloid cardiomyopathy of Danish origin.Semantic proximity Read ↗

The facile detection of the nt 1226 mutation of glucocerebrosidase by 'mismatched' PCR.Semantic proximity Read ↗

A simple and rapid polymerase chain reaction-based method for detecting a prevalent mutation (R413P) in Japanese phenylketonuria patients.Semantic proximity Read ↗

Transthyretin isoleucine-122 mutation in African and American blacks.Semantic proximity Read ↗

Transthyretin Ile 122 and cardiac amyloidosis in African-Americans. 2 case reports.Semantic proximity Read ↗

Cardiac amyloidosis: report of a patient heterozygous for the transthyretin isoleucine 122 variant.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.