Literature DB >> 1356168

DNA-based presymptomatic diagnosis of Wilson disease.

D Gaffney1, J L Walker, J G O'Donnell, G S Fell, K F O'Neill, R H Park, R I Russell.   

Abstract

Investigation using DNA markers in a family with Wilson disease revealed that an apparently normal child of 10 years of age with non-diagnostic copper biochemistry had the disease. The procedure used linked restriction fragment length polymorphic markers. Demonstration of increased liver copper concentration from a liver biopsy confirmed the diagnosis and the child was started on chelation therapy. Two other asymptomatic siblings were shown, using the same techniques, not to have the disease. Similar analysis was carried out on another family with just one index case.

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Year:  1992        PMID： 1356168     DOI： 10.1007/bf01799625

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  14 in total

1.  Carrier detection and early diagnosis of Wilson's disease by restriction fragment length polymorphism analysis.

Authors:  A Figus; R Lampis; M Devoto; M S Ristaldi; A Ideo; S de Virgilis; A M Nurchi; A Corrias; R Corda; M E Lai
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

2.  Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Authors:  L M Kunkel; K D Smith; S H Boyer; D S Borgaonkar; S S Wachtel; O J Miller; W R Breg; H W Jones; J M Rary
Journal:  Proc Natl Acad Sci U S A       Date:  1977-03       Impact factor: 11.205

3.  Predicting genotypes at loci for autosomal recessive disorders using linked genetic markers: application to Wilson's disease.

Authors:  L A Farrer; B Bonne-Tamir; M Frydman; A Magazanik; K K Kidd; A M Bowcock; L L Cavalli-Sforza
Journal:  Hum Genet       Date:  1988-06       Impact factor: 4.132

4.  Polymorphisms revealed by random probe H2-10 [D13S26] which maps to chromosome 13q21-q22.

Authors:  A M Bowcock; J M Hebert; L L Cavalli-Sforza
Journal:  Nucleic Acids Res       Date:  1988-03-25       Impact factor: 16.971

5.  Close linkage of the Wilson's disease locus to D13S12 in the chromosomal region 13q21 and not to ESD in 13q14.

Authors:  R H Houwen; H Scheffer; G J te Meerman; P van der Vlies; C H Buys
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

6.  "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

7.  Eight closely linked loci place the Wilson disease locus within 13q14-q21.

Authors:  A M Bowcock; L A Farrer; J M Hebert; M Agger; I Sternlieb; I H Scheinberg; C H Buys; H Scheffer; M Frydman; T Chajek-Saul
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

8.  Linkage of the Wilson disease gene to chromosome 13 in North-American pedigrees.

Authors:  V Yuzbasiyan-Gurkan; G J Brewer; E Boerwinkle; P J Venta
Journal:  Am J Hum Genet       Date:  1988-06       Impact factor: 11.025

9.  Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.

Authors:  M Frydman; B Bonné-Tamir; L A Farrer; P M Conneally; A Magazanik; S Ashbel; Z Goldwitch
Journal:  Proc Natl Acad Sci U S A       Date:  1985-03       Impact factor: 11.205

10.  Molecular cloning of the human esterase D gene, a genetic marker of retinoblastoma.

Authors:  E Y Lee; W H Lee
Journal:  Proc Natl Acad Sci U S A       Date:  1986-09       Impact factor: 11.205
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  3 in total

Review 1.  ACP Best Practice No 163. Wilson's disease: acute and presymptomatic laboratory diagnosis and monitoring.

Authors:  D Gaffney; G S Fell; D S O'Reilly
Journal:  J Clin Pathol       Date:  2000-11       Impact factor: 3.411

2.  Case report: concordant traumatic brainstem contusion delayed diagnosis in a young man with Wilson's disease.

Authors:  A Marcus; C Ammermann; M Klein; M H Schmidt
Journal:  Eur Child Adolesc Psychiatry       Date:  1995-01       Impact factor: 4.785

3.  Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.

Authors:  Monica Penon-Portmann; Stephanie Lotz-Esquivel; Alejandra Chavez Carrera; Mildred Jiménez-Hernández; Danny Alvarado-Romero; Sharon Segura-Cordero; Fiorella Rimolo-Donadio; Francisco Hevia-Urrutia; Alfredo Mora-Guevara; Manuel Saborío-Rocafort; Gabriela Jiménez-Arguedas; Ramsés Badilla-Porras
Journal:  JIMD Rep       Date:  2020-02-06
  3 in total

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