Literature DB >> 1971996

Krabbe disease locus mapped to chromosome 14 by genetic linkage.

J Zlotogora1, S Chakraborty, R G Knowlton, D A Wenger.   

Abstract

Using genetic linkage we have localized the gene coding for galactocerebrosidase (GALC) to human chromosome 14. Patients with Krabbe disease and their family members were assayed for GALC activity in leukocytes or fibroblasts and were classified as affected, carrier, noncarrier, or unknown. Polymorphic DNA markers from chromosome 14 demonstrated a multipoint LOD score of 3.40 with GALC located 13 cM centromere distal to CRI-C70 (D14S24). This finding is consistent with the location of the mouse twitcher mutation (a model of human GALC deficiency) on chromosome 12, which has substantial homology to human chromosome 14. Our data do not support a previous report's localization of GALC to chromosome 17.

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Year:  1990        PMID： 1971996      PMCID： PMC1683747     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  20 in total

1.  Frequent recombination is observed in the distal end of the long arm of chromosome 14.

Authors:  Y Nakamura; M Lathrop; P O'Connell; M Leppert; M I Kamboh; J M Lalouel; R White
Journal:  Genomics       Date:  1989-01       Impact factor: 5.736

Review 2.  Report of the committee on the genetic constitution of chromosomes 14 and 15.

Authors:  D W Cox; T A Donlon
Journal:  Cytogenet Cell Genet       Date:  1989

3.  Isolation and characterization of cDNA clones for human erythrocyte beta-spectrin.

Authors:  J T Prchal; B J Morley; S H Yoon; T L Coetzer; J Palek; J G Conboy; Y W Kan
Journal:  Proc Natl Acad Sci U S A       Date:  1987-11       Impact factor: 11.205

4.  A genetic linkage map of the human genome.

Authors:  H Donis-Keller; P Green; C Helms; S Cartinhour; B Weiffenbach; K Stephens; T P Keith; D W Bowden; D R Smith; E S Lander
Journal:  Cell       Date:  1987-10-23       Impact factor: 41.582

5.  Galactocerebrosidase activity in somatic cell hybrids derived from twitcher mouse/control human fibroblasts is associated with human chromosome 17.

Authors:  T A Lyerla; J T Konola; M C Skiba; S Raghavan
Journal:  Am J Hum Genet       Date:  1989-02       Impact factor: 11.025

6.  A mapped set of DNA markers for human chromosome 17.

Authors:  Y Nakamura; M Lathrop; P O'Connell; M Leppert; D Barker; E Wright; M Skolnick; S Kondoleon; M Litt; J M Lalouel
Journal:  Genomics       Date:  1988-05       Impact factor: 5.736

7.  "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1984-02       Impact factor: 3.365

8.  The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14.

Authors:  C B Newgard; R J Fletterick; L A Anderson; R V Lebo
Journal:  Am J Hum Genet       Date:  1987-04       Impact factor: 11.025

9.  Multipoint linkage analysis in neurofibromatosis type I: an international collaboration.

Authors:  D E Goldgar; P Green; D M Parry; J J Mulvihill
Journal:  Am J Hum Genet       Date:  1989-01       Impact factor: 11.025

10.  Krabbe disease: increased incidence in a highly inbred community.

Authors:  J Zlotogora; R Regev; M Zeigler; T C Iancu; G Bach
Journal:  Am J Med Genet       Date:  1985-08
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  14 in total

Review 1.  Mouse chromosome 12.

Authors:  P D'Eustachio
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

2.  Krabbe disease: unusual MRI findings.

Authors:  Veena A Nagar; Meher A Ursekar; Pradeep Krishnan; Bhavin G Jankharia
Journal:  Pediatr Radiol       Date:  2005-10-25

Review 3.  Mouse chromosome 12.

Authors:  P D'Eustachio
Journal:  Mamm Genome       Date:  1991       Impact factor: 2.957

Review 4.  Biochemical, cell biological, pathological, and therapeutic aspects of Krabbe's disease.

Authors:  Je-Seong Won; Avtar K Singh; Inderjit Singh
Journal:  J Neurosci Res       Date:  2016-11       Impact factor: 4.164

5.  Localization of the twitcher (twi) mutation on mouse chromosome 12.

Authors:  P D'Eustachio; V Clarke
Journal:  Mamm Genome       Date:  1993-11       Impact factor: 2.957

6.  Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel.

Authors:  M A Rafi; P Luzi; J Zlotogora; D A Wenger
Journal:  Hum Genet       Date:  1996-03       Impact factor: 4.132

7.  Intracranial and spinal MR imaging findings associated with Krabbe's disease: case report.

Authors:  C A Given; C C Santos; D D Durden
Journal:  AJNR Am J Neuroradiol       Date:  2001-10       Impact factor: 3.825

8.  Thickening of the cauda equina roots: a common finding in Krabbe disease.

Authors:  Misun Hwang; Giulio Zuccoli; Ashok Panigrahy; David Rodriguez; Michele D Poe; Maria L Escolar
Journal:  Eur Radiol       Date:  2016-05-02       Impact factor: 5.315

9.  Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis.

Authors:  R Oehlmann; J Zlotogora; D A Wenger; R G Knowlton
Journal:  Am J Hum Genet       Date:  1993-12       Impact factor: 11.025

10.  Aberrant production of tenascin-C in globoid cell leukodystrophy alters psychosine-induced microglial functions.

Authors:  Kumiko I Claycomb; Paige N Winokur; Kasey M Johnson; Alexandra M Nicaise; Anthony W Giampetruzzi; Anthony V Sacino; Evan Y Snyder; Elisa Barbarese; Ernesto R Bongarzone; Stephen J Crocker
Journal:  J Neuropathol Exp Neurol       Date:  2014-10       Impact factor: 3.685
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