uu.seUppsala University Publications
Change search
ReferencesLink to record
Permanent link

Direct link
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland
Show others and affiliations
1992 (English)In: Genomics, ISSN 0888-7543, E-ISSN 1089-8646, Vol. 12, no 3, 590-595 p.Article in journal (Refereed) Published
Abstract [en]

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 the two nucleotide changes were always associated, and they were identified in 98% of the AGU alleles analyzed. Thus, the high prevalence of AGU in the Finnish population is the consequence of a founder effect of one ancient mutation. The identification of asymptomatic carriers by the minisequencing test proved to be unequivocal. The method also allowed quantification of a mutated nucleotide sequence present in less than 1% of a sample. The frequency of AGU carriers in this population was 1/36 when estimated by quantifying the mutated AGU allele in a pooled leukocyte sample from 1350 normal Finnish individuals.

Place, publisher, year, edition, pages
1992. Vol. 12, no 3, 590-595 p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-169897DOI: 10.1016/0888-7543(92)90452-XPubMedID: 1559710OAI: oai:DiVA.org:uu-169897DiVA: diva2:508038
Available from: 2012-03-07 Created: 2012-03-07 Last updated: 2012-03-30Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Syvänen, Ann-Christine
In the same journal
Medical and Health Sciences

Search outside of DiVA

GoogleGoogle Scholar

Altmetric score

Total: 138 hits
ReferencesLink to record
Permanent link

Direct link