A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection.

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Article

A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection.

The Journal of biological chemistry - 5 Feb 1992

Wakamatsu N, Kobayashi H, Miyatake T, Tsuji S

Abstract excerpt

The molecular basis of a dramatically decreased steady state level of beta-hexosaminidase beta subunit mRNA in a patient with juvenile Sandhoff disease was investigated. Nucleotide sequence analysis of the HEXB gene coding for the beta subunit revealed two single base substitutions, one in exon 2 (A to G, a known polymorphism) and the other in exon 11 (C to T). Analysis of the beta subunit mRNA species...

Topics

Adult
Base Sequence
Blotting, Northern
Blotting, Southern
Cell Line
Chimera
DNA
Exons
Fibroblasts
Hexosaminidase B
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Polymerase Chain Reaction

RNA Splicing

RNA, Messenger

Sandhoff Disease

Source

Open in PubMed

Identifiers

PMID: 1531140

Genes

HEXB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1531140-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection.PMID 1531140Read ↗

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.Semantic proximity Read ↗

Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.Semantic proximity Read ↗

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