Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland.

doi:10.1016/0888-7543(92)90452-x

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Article

Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland.

Genomics - 1 Mar 1992

Syvänen A C, Ikonen E, Manninen T, Bengtström M, Söderlund H, Aula P, Peltonen L

Abstract excerpt

Aspartylglucosaminuria (AGU) is a recessively inherited lysosomal disease caused by inadequate aspartylglucosaminidase (AGA) activity. The disease is prevalent in the genetically isolated Finnish population. We have used a new method, solid-phase minisequencing, to determine the frequency of two missense mutations in the AGA gene in this population. In samples from 70% of the Finnish AGU families, we found that...

Topics

Acetylglucosamine
Alleles
Aspartylglucosylaminase
Base Sequence
DNA
Finland
Gene Frequency
Genetic Carrier Screening
Genetic Techniques
Humans
Leukocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lysosomal Storage Diseases

Molecular Sequence Data

Mutation

Oligodeoxyribonucleotides

Polymerase Chain Reaction

Prevalence

Source

Open in PubMed

Identifiers

PMID: 1559710
DOI: 10.1016/0888-7543(92)90452-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1559710-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland.PMID 1559710Read ↗

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