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

Rapid nonradioactive tracer method for detecting carriers of the major Ashkenazi Jewish Tay-Sachs disease mutations.

Clinical chemistry - 1 Nov 1992

Strasberg P M, Clarke J T

Abstract excerpt

Tay-Sachs disease (TSD, GM2 gangliosidosis, Type I) is an autosomal recessive lysosomal storage disease caused by deficiency of beta-hexosaminidase A (Hex A) resulting from mutations in the gene (HEXA) encoding the alpha-subunit of the enzyme. Three mutations, in exons 7 and 11 and at the exon 12-intron 12 junction, account for > 90% of alleles identified in obligate Ashkenazi Jewish carriers. Mutation analysis...

Read the complete abstract on PubMed

Topics

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

Share to DNA
Share to Exons
Share to Genetic Testing

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

Share to Introns

Share to Mutation

Share to Nucleic Acid Hybridization

Share to Oligonucleotide Probes

Share to Polymerase Chain Reaction

Source

Identifiers

PMID: 1424119

Genes

HEXA

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

Rapid nonradioactive tracer method for detecting carriers of the major Ashkenazi Jewish Tay-Sachs disease mutations.PMID 1424119Read ↗

Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.Semantic proximity Read ↗

Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program.Semantic proximity Read ↗

Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.Semantic proximity Read ↗

A gel electrophoretic assay for detecting the insertion defect in Ashkenazi Jewish carriers of Tay-Sachs disease.Semantic proximity Read ↗

Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure.Semantic proximity Read ↗

Biallelic discrimination assays for the three common Ashkenazi Jewish mutations and a common non-Jewish mutation, in Tay-Sachs disease, using fluorogenic TaqMan probes.Semantic proximity Read ↗

The molecular basis of Tay-Sachs disease: mutation identification and diagnosis.Semantic proximity Read ↗

A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.Semantic proximity Read ↗

Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.Semantic proximity Read ↗

Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.Semantic proximity Read ↗

Rapid detection of fetal Mendelian disorders: Tay-Sachs disease.Semantic proximity Read ↗

Biochemistry and genetics of Tay-Sachs disease.Semantic proximity Read ↗

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