Eiberg H, Mohr J, Nielsen L S
Clin Genet. 1984 Jul;26(1):23-9. doi: 10.1111/j.1399-0004.1984.tb00782.x.
Plasma fucosidase (FUCA2) was examined by means of a technique using p-nitrophenyl-alpha-L-fucopyranoside as substrate. The material consisted of normal Danish families, including 1,672 unrelated persons (parents). In this material the low activity allele frequency was found to be plow = 0.286 which agrees with earlier studies in European populations. The allele frequencies did not differ significantly between the sexes. Segregation ratios agreed with the hypothesis that 'low' is due to an autosomal recessive allele. Our results give a strong indication of linkage for FUCA2-PLG (z = 7.37 theta = 0.12) in males, and the linkage may be considered as formally demonstrated. The PLG-system as judged from our indication of linkage with GC (z = 2.35, theta = 0.30 in males) is then possibly located on chromosome 4p (Eiberg et al. 1981).
采用以对硝基苯基-α-L-岩藻糖苷为底物的技术检测血浆岩藻糖苷酶(FUCA2)。研究材料为丹麦正常家庭,包括1672名无亲缘关系的个体(父母)。在该材料中,低活性等位基因频率为plow = 0.286,这与欧洲人群的早期研究结果一致。等位基因频率在两性之间无显著差异。分离比例符合“低”是由常染色体隐性等位基因导致的假设。我们的结果有力地表明男性中FUCA2与纤溶酶原(PLG)存在连锁关系(z = 7.37,θ = 0.12),且这种连锁关系可视为已得到正式证实。根据我们与GC连锁关系的提示(男性中z = 2.35,θ = 0.30)判断,PLG系统可能位于4号染色体p区(艾伯格等人,1981年)。