Prospects of carrier screening of aspartylglucosaminuria in Finland.
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.
Hietala
M
M
Department of Medical Genetics, University of Turku, Finland.
Grön
K
K
Syvänen
A C
AC
Peltonen
L
L
Aula
P
P
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D001227:Aspartylglucosylaminase / Q000235:genetics*; D005387:Finland; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D017354:Point Mutation; D016133:Polymerase Chain Reaction
D001227:Aspartylglucosylaminase