Abstract
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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References
Autio S: Aspartylglucosaminuria. Analysis of thirty-four patients. J Ment Defic Res Monogr Ser I, 1972.
Pollitt RJ, Jenner FA: Aspartylglycosaminuria. An inborn error of metabolism associated with mental defect. Lancet 1968;ii:253.
Aula P, Autio S, Raivio KO, Rapola J: Aspartylglucosaminuria; in Durand P, O’Brien JS (eds): Genetic Errors of Glycoprotein Metabolism. Berlin, Springer, 1982, pp 122–152.
Autio S, Visakorpi JK, Järvinen H: Aspartylglucosaminuria (AGU). Further aspects on its clinical picture, mode of inheritance and epidemiology based on a series of 57 patients. Ann Clin Res 1973;5:149–155.
Aula P, Raivio KO, Autio S: Enzymatic diagnosis and carrier detection of aspartylglucosaminuria using blood samples. Pediatr Res 1976;10:625–629
Ikonen E, Baumann M, Grön K, Syvänen AC, Enomaa N, Halila R, Aula P, Peltonen L: Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. EMBO J 1991;10:51–58
Syvänen AC, Ikonen E, Manninen T, Bengtström M, Söderlund H, Aula P, Peltonen L: Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: Application to aspartylglucosaminuria in Finland. Genomics 1992;12:590–595
Syvänen AC, Aalto-Setälä K, Harju L, Kontula K, Söderlund H: A primer-guided nucleotide incorporation assay in the genotyping of apolipoprotein E. Genomics 1990;8:684–692
Kawasaki ES: Sample preparation from blood, cells and other fluids; in Innis MA, Gelfand DH, Sninsky JJ, White TJ (eds): PCR Protocols. A Guide to Methods and Applications. San Diego, Academic Press, 1990, pp 146–152.
Norio R, Nevanlinna HR, Perheentupa J: Hereditary diseases in Finland; rare flora in rare soil. Ann Clin Res 1973;5:109–141
Aula P, Renlund M, Raivio O, Koskela S-L: Screening of inherited oligosaccharidurias among mentally retarded patients in northern Finland. J Ment Defic Res 1986;30:365–368
Järvelä I, Schleutker J, Haataja L, Santavuori P, Puhakka L, Manninen T, Palotie A, Sandkuijl LA, Renlund M, White R, Aula P, Peltonen L: Infantile neuronal ceroid lipofuscinosis (INCL, CLN1) maps to the short arm of chromosome 1. Genomics 1991;8:170–173
Lehesjoki A-E, Koskiniemi M, Sistonen P, Miao J, Hästbacka J, Norio R, de la Chapelle A: Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc Natl Acad Sci USA 1991;88:3696–3699
Hästbacka J, Kaitila I, Sistonen P, de la Chapelle A: Diastrophic dysplasia gene maps to the distal long arm of chromosome 5. Proc Natl Acad Sci USA 1990;87:8056–8059
Acknowledgements
We thank Ilona Carlsson for technical assistance. This study was supported by the Academy of Finland.
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Hietala, M., Grön, K., Syvänen, AC. et al. Prospects of Carrier Screening of Aspartylglucosaminuria in Finland. Eur J Hum Genet 1, 296–300 (1993). https://doi.org/10.1159/000472427
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DOI: https://doi.org/10.1159/000472427
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