Literature DB >> 2890570

Anderson Fabry disease, a close linkage with highly polymorphic DNA markers DXS17, DXS87 and DXS88.

K D MacDermot1, S H Morgan, J K Cheshire, T M Wilson.   

Abstract

Anderson Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency. Hemizygous males and some heterozygous females develop renal failure and cardiovascular complications in early adult life. We have investigated six large UK families to assess the possible linkage of five polymorphic DNA probes to the Anderson Fabry locus, previously localised to Xq21-24. No recombination was found between Anderson Fabry disease and DXS87, DXS88 and DXS17, which gave lodmax = 6.4, 6.4 and 5.8 respectively at theta = 0.10, (upper confidence limit 0.10). DXS3 gave lodmax 2.9 at theta = 0.10 (upper confidence limit 0.25). DXYS1 was excluded from linkage. The best fit map (DXYS1/DXS3) theta = 0.192 (DXS17/DXS87/DXS88/Anderson Fabry locus) provided no information about the order of loci in parentheses due to the absence of recombinants. The close linkage of DXS17, DXS87 and DXS88, together with alpha-galactosidase A estimation, can be used for antenatal diagnosis and carrier detection until the application of a gene specific probe has been evaluated.

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Year:  1987        PMID： 2890570     DOI： 10.1007/bf00284482

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


  17 in total

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Journal:  Q J Med       Date:  1962-04

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Journal:  Cytogenet Cell Genet       Date:  1978

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Journal:  Proc Natl Acad Sci U S A       Date:  1977-03       Impact factor: 11.205

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Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

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9.  Heterogeneity in the map distance between X-linked agammaglobulinemia and a map of nine RFLP loci.

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Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132

10.  Fabry's disease: alpha-galactosidase deficiency.

Authors:  J A Kint
Journal:  Science       Date:  1970-02-27       Impact factor: 47.728
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  10 in total

1.  Dystonia-parkinsonism syndrome (XDP) locus: flanking markers in Xq12-q21.1.

Authors:  K G Kupke; M B Graeber; U Müller
Journal:  Am J Hum Genet       Date:  1992-04       Impact factor: 11.025

2.  Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone.

Authors:  A J Kirkilionis; D C Riddell; M W Spence; R G Fenwick
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

3.  Novel trinucleotide deletion in Fabry's disease.

Authors:  M A Cariolou; M Christodoulides; P Manoli; A Kokkofitou; D Tsambaos
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132

Review 4.  Anderson-Fabry disease.

Authors:  S H Morgan; M A Crawfurd
Journal:  BMJ       Date:  1988-10-08

5.  Physical mapping shows close linkage between the alpha-galactosidase A gene (GLA) and the DXS178 locus.

Authors:  D Vetrie; D Bentley; M Bobrow; A Harris
Journal:  Hum Genet       Date:  1993-08       Impact factor: 4.132

6.  Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.

Authors:  H S Bernstein; D F Bishop; K H Astrin; R Kornreich; C M Eng; H Sakuraba; R J Desnick
Journal:  J Clin Invest       Date:  1989-04       Impact factor: 14.808

7.  A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations.

Authors:  L Hasholt; S A Sørensen; A Wandall; E B Andersen; P Arlien-Søborg
Journal:  J Med Genet       Date:  1990-05       Impact factor: 6.318

8.  Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.

Authors:  B Knebelmann; G Deschenes; F Gros; M C Hors; J P Grünfeld; J Zhou; K Tryggvason; M C Gubler; C Antignac
Journal:  Am J Hum Genet       Date:  1992-07       Impact factor: 11.025

9.  Sequence variations in the first exon of alpha-galactosidase A.

Authors:  J P Davies; B G Winchester; S Malcolm
Journal:  J Med Genet       Date:  1993-08       Impact factor: 6.318

10.  Anderson-Fabry disease: an unusual presentation with lymphadenopathy.

Authors:  S C Mayou; J D Kirby; S H Morgan
Journal:  J R Soc Med       Date:  1989-09       Impact factor: 18.000
  10 in total

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