Linkage of plasma α‐L‐fucosidase (FUCA2) and the plasminogen (PLG) system

Plasma fucosidase (FUCA2) was examined by means of a technique using p‐nitrophenyl‐α‐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 FUC A2‐PLG (ž= 7.37 θ=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 (ž= 2.35, θ= 0.30 in males) is then possibly located on chromosome 4p (Eiberg et al. 1981).

[1]  L. Iselius,et al.  Segregation analysis of α-L-fucosidase activity , 1982, Human Genetics.

[2]  P. Willems,et al.  pH-Dependent association-dissociation of high and low activity plasma a-l-fucosidase , 2004, Human Genetics.

[3]  G. Romeo,et al.  Relationship between α-L-fucosidase deficiency in plasma and α-L-fucosidase activity in leukocytes , 1979, Human Genetics.

[4]  H. Eiberg,et al.  Gentics and linkage relationships of the C3 polymorphism: discovery of C3‐Se linkage and assignment of LES‐C3‐DM‐Se‐PEPD‐Lu synteny to chromosome 19 , 1983, Clinical genetics.

[5]  H. Eiberg,et al.  Genetics of paraoxonase , 1981, Annals of human genetics.

[6]  S. Goss,et al.  Gene transfer by means of cell fusion I. Statistical mapping of the human X-chromosome by analysis of radiation-induced gene segregation. , 1977, Journal of cell science.

[7]  S. Goss,et al.  Gene transfer by means of cell fusion. II. The mapping of 8 loci on human chromosome 1 by statistical analysis of gene assortment in somatic cell hybrids. , 1977, Journal of cell science.

[8]  G. Corney,et al.  Linkage between α‐fucosidase and the rhesus blood group , 1977 .

[9]  L. Poenaru,et al.  ENZYME ACTIVITY IN FUCOSIDOSIS , 1977, The Lancet.

[10]  G. Donnell,et al.  Biochemical and genetic studies of plasma and leukocyte alpha-L-fucosidase. , 1976, American journal of human genetics.

[11]  D. Deutsch,et al.  Plasminogen: Purification from Human Plasma by Affinity Chromatography , 1970, Science.

[12]  O. Vesterberg,et al.  Synthesis and Isoelectric Fractionation of Carrier Ampholytes. , 1969 .

[13]  By C. A. B. Smith,et al.  A TEST FOR SEGREGATION RATIOS IN FAMILY DATA , 1956, Annals of human genetics.