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Convenient and quan...
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing : application to aspartylglucosaminuria in Finland
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Syvänen, Ann-Christine (author)
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Ikonen, E (author)
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Manninen, T (author)
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Bengtström, M (author)
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Söderlund, H (author)
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Aula, P (author)
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Peltonen, L (author)
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- 1992
- 1992
- English.
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In: Genomics. - 0888-7543 .- 1089-8646. ; 12:3, s. 590-595
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
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- 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.
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- art (subject category)
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