Literature DB >> 6590153

Linkage of plasma alpha-L-fucosidase (FUCA2) and the plasminogen (PLG) system.

H Eiberg, J Mohr, L S Nielsen.   

Abstract

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).

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Year:  1984        PMID: 6590153     DOI: 10.1111/j.1399-0004.1984.tb00782.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  15 in total

1.  alpha-L-fucosidase in human fibroblasts. I. The enzyme activity polymorphism.

Authors:  J G Wauters; K L Stuer; A Van Elsen; P J Willems
Journal:  Biochem Genet       Date:  1992-04       Impact factor: 1.890

2.  Fucosidosis: genetic and biochemical analysis of eight cases.

Authors:  H Cragg; M Williamson; E Young; J O'Brien; J Alhadeff; S Fang-Kircher; E Paschke; B Winchester
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

3.  Lafora progressive myoclonus epilepsy: narrowing the chromosome 6q24 locus by recombinations and homozygosities.

Authors:  J Sainz; B A Minassian; J M Serratosa; M N Gee; L M Sakamoto; R Iranmanesh; S Bohlega; R J Baumann; S Ryan; R S Sparkes; A V Delgado-Escueta
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

4.  Restriction analysis of the structural alpha-L-fucosidase gene and its linkage to fucosidosis.

Authors:  J K Darby; P J Willems; P Nakashima; J Johnsen; R E Ferrell; E M Wijsman; D S Gerhard; N C Dracopoli; D Housman; J Henke
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

5.  Linkage disequilibrium of plasminogen polymorphisms and assignment of the gene to human chromosome 6q26-6q27.

Authors:  J C Murray; K H Buetow; M Donovan; S Hornung; A G Motulsky; C Disteche; K Dyer; K Swisshelm; J Anderson; E Giblett
Journal:  Am J Hum Genet       Date:  1987-04       Impact factor: 11.025

6.  Heterogeneity of mRNA expression in Italian fucosidosis patients.

Authors:  S Guazzi; P Persici; R Gatti; P Durand; J S O'Brien; G Romeo
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132

7.  Biosynthesis, processing, and extracellular release of alpha-L-fucosidase in lymphoid cell lines of different genetic origins.

Authors:  R A DiCioccio; K S Brown
Journal:  Biochem Genet       Date:  1988-06       Impact factor: 1.890

8.  Mapping studies of the serum cholinesterase-2 locus (CHE2).

Authors:  M L Marazita; B J Keats; M A Spence; R S Sparkes; L L Field; M C Sparkes; M Crist
Journal:  Hum Genet       Date:  1989-09       Impact factor: 4.132

9.  Genetically polymorphic alpha-L-fucosidase (FUCA1) isozymes detected in blood plasma.

Authors:  H Takeshita; T Yasuda; D Nadano; R Iida; M Nakanaga; E Tenjo; K Sawazaki; K Kishi
Journal:  Hum Genet       Date:  1994-09       Impact factor: 4.132

10.  Specific activity of alpha-L-fucosidase in sera with phenotypes of either low, intermediate, or high total enzyme activity and in a fucosidosis serum.

Authors:  R A DiCioccio; J J Barlow; K L Matta
Journal:  Biochem Genet       Date:  1986-02       Impact factor: 1.890

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