Literature DB >> 457132

Relationship between alpha-L-fucosidase deficiency in plasma and alpha-L-fucosidase activity in leukocytes.

R Gatti, S Cavalieri, G Romeo.   

Abstract

After testing a population sample of 185 hospitalized Italian children for the plasma alpha-L-fucosidase deficiency and establishing an approximate threshold value between heterozygotes and wild-type homozygotes, we analyzed by two statistical methods the distribution of the two genotypes. The results obtained by probit analysis agree with threshold and average values expected on the basis of the Hardy-Weinberg equilibrium. In addition, the level of alpha-fucosidase in leukocytes of 12 individuals with deficiency of alpha-fucosidase in plasma was found to be significantly lower than that of 61 controls (P less than 0.005). These results indicate that the mutation(s) causing a deficiency of alpha-fucosidase in plasma is (are) also expressed in leukocytes.

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Year:  1979        PMID： 457132     DOI： 10.1007/bf00273270

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  11 in total

1.  Silent allele as genetic basis of fucosidosis.

Authors:  B M Turner; N G Beratis; V S Turner; K Hirschhorn
Journal:  Nature       Date:  1975-10-02       Impact factor: 49.962

2.  Polymorphism of human alpha fucosidase.

Authors:  B M Turner; V S Turner; N G Beratis; K Hirschhorn
Journal:  Am J Hum Genet       Date:  1975-09       Impact factor: 11.025

3.  Biochemical and genetic studies of plasma and leukocyte alpha-L-fucosidase.

Authors:  W G Ng; G N Donnell; R Koch; W R Bergren
Journal:  Am J Hum Genet       Date:  1976-01       Impact factor: 11.025

4.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

5.  A sensitive fluorometric assay for alpha-KL-fucosidase.

Authors:  S Wood
Journal:  Clin Chim Acta       Date:  1975-02-08       Impact factor: 3.786

6.  Plasma alpha-L-fucosidase: presence of a low activity variant in some normal individuals.

Authors:  S Wood
Journal:  J Lab Clin Med       Date:  1976-09

7.  Fucosidosis in Calabria: founder effect or high gene frequency.

Authors:  G Romeo; C Borrone; R Gatti; P Durand
Journal:  Lancet       Date:  1977-02-12       Impact factor: 79.321

8.  Linkage between alpha-fucosidase and the rhesus blood group.

Authors:  G Corney; R A Fisher; P J Cook; J Noades; E B Robson
Journal:  Ann Hum Genet       Date:  1977-05       Impact factor: 1.670

9.  A comparison of the alpha-L-fucosidase activities of human liver and serum.

Authors:  M A Chester; B Hultberg; S Sjöblad
Journal:  Biochim Biophys Acta       Date:  1977-11-23

10.  Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood.

Authors:  J P Kampine; R O Brady; J N Kanfer; M Feld; D Shapiro
Journal:  Science       Date:  1967-01-06       Impact factor: 47.728
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  8 in total

1.  Homozygosity for the variant alpha-L-fucosidase trait and mucolipidosis III.

Authors:  R Gatti; C Lombardo; P P Cardo
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

2.  In vitro expression of alpha-L-fucosidase activity polymorphism observed in plasma.

Authors:  A F Van Elsen; J G Leroy; J G Wauters; P J Willems; C Buytaert; K Verheyen
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

3.  Segregation analysis of alpha-L-fucosidase activity.

Authors:  L Iselius; J R Playfer; D A Evans
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

4.  pH-dependent association-dissociation of high and low activity plasma alpha-L-fucosidase.

Authors:  P J Willems; E Romeo; W R Den Tandt; A F Van Elsen; J G Leroy
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

5.  Abnormal expression of alpha-L-fucosidase in lymphoid cell lines of fucosidosis patients.

Authors:  R A DiCioccio; J K Darby; P J Willems
Journal:  Biochem Genet       Date:  1989-06       Impact factor: 1.890

6.  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

7.  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

8.  Detection of carriers and prenatal diagnosis for fucosidosis in Calabria.

Authors:  P Durand; R Gatti; C Borrone; G Costantino; S Cavalieri; M Filocamo; G Romeo
Journal:  Hum Genet       Date:  1979-10-01       Impact factor: 4.132
  8 in total

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