Linkage of aspartylglucosaminuria (AGU) to marker loci on the long arm of chromosome 4

摘要: Aspartylglucosaminuria (AGU) is caused by deficient activity of the enzyme aspartylglucosaminidase (AGA). The structural gene for AGA has been assigned to region 4q21-qter chromosome 4. We have studied map position AGU locus in relation other marker loci on long arm 4 using linkage analyses. Restriction fragment length polymorphism alleles ADH2, ADH3, EGF, FGα and FGβ blood group antigenes MNS were determined a panel 12 Finnish families. heterozygous family members identified reduced lymphocytes. Linkage studies performed both pairwise multipoint Loose FG was observed (\(\hat z\) = 1.16, \(\hat 1.39, respectively). Multipoint analysis fixed [ADH-(0.03)-EGF-(0.35)-FG-(0.11)-MNS] suggests that location 0.05–0.30 recombination units distal 3.03). order cen-ADH-EGF-FG-MNS-AGU 35 times more likely than next best cen-ADH-EGF-AGU-FG-MNS.