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- Hietala, M (author)
Prospects of carrier screening of aspartylglucosaminuria in Finland
- Article/chapterEnglish1993
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- 1993
- printrdacarrier
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- LIBRIS-ID:oai:DiVA.org:uu-169831
- https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-169831URI
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- Language:English
- Summary in:English
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- The frequency of carriers of the AGUFin mutation, the predominant mutation causing aspartylglucosaminuria in Finland, was determined in a population sample comprising 553 newborns from a delivery hospital in southern Finland, and 607 from a hospital in northern Finland. The AGUFin point mutation was identified from cord blood samples using the PCR-based, solid-phase minisequencing method. Nineteen carriers of the AGUFin mutation were detected, 8 (1:69) in the sample from the southern and 11 (1:55) from the northern population, respectively. The solid-phase minisequencing method proved to be rapid and convenient for the detection of the AGUFin mutation, and can readily be applied in large-scale carrier screening at the population level.
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- Grön, K (author)
- Syvänen, Ann-Christine (author)
- Peltonen, L (author)
- Aula, P (author)
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- In:European Journal of Human Genetics1:4, s. 296-3001018-48131476-5438
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