Literature DB >> 3474893

Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13.

A M Bowcock, L A Farrer, L L Cavalli-Sforza, J M Hebert, K K Kidd, M Frydman, B Bonne-Tamir.   

Abstract

Linkage of both several chromosome 13 DNA markers and the locus for the red cell enzyme esterase D (ESD) to Wilson disease (WD), an autosomal recessive disorder affecting copper metabolism, was investigated in five Middle-Eastern kindreds. The single-copy probe 7D2, identifying the polymorphic region D13S10, was demonstrated to lie 7.5 centiMorgans (cM) from the locus, since a maximum lod score of 4.66 at a recombination frequency of .07 (7.5 cM) was found between the locus for WD (WND) and D13S10. Multipoint linkage analysis between several chromosome 13 markers and WND enables us to propose that the order of markers closely linked to WND is as follows: centromere-D13S10-ESD-WND.

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Year:  1987        PMID： 3474893      PMCID： PMC1684171     

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


  22 in total

1.  Penicillamine in Wilson's disease.

Authors:  I H Scheinberg
Journal:  Lancet       Date:  1982-06-26       Impact factor: 79.321

2.  Heterogeneity of Wilson's disease in Israel.

Authors:  J Passwell; A Adam; D Garfinkel; M Streiffler; B E Cohen
Journal:  Isr J Med Sci       Date:  1977-01

3.  Isolation and regional localization of DNA segments revealing polymorphic loci from human chromosome 13.

Authors:  W Cavenee; R Leach; T Mohandas; P Pearson; R White
Journal:  Am J Hum Genet       Date:  1984-01       Impact factor: 11.025

4.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

5.  Chromosome 13 restriction fragment length polymorphisms.

Authors:  T P Dryja; J M Rapaport; R Weichselbaum; G A Bruns
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

6.  Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14.

Authors:  R S Sparkes; M C Sparkes; M G Wilson; J W Towner; W Benedict; A L Murphree; J J Yunis
Journal:  Science       Date:  1980-05-30       Impact factor: 47.728

7.  Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D.

Authors:  R S Sparkes; A L Murphree; R W Lingua; M C Sparkes; L L Field; S J Funderburk; W F Benedict
Journal:  Science       Date:  1983-02-25       Impact factor: 47.728

8.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

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

Review 10.  Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

Authors:  D Botstein; R L White; M Skolnick; R W Davis
Journal:  Am J Hum Genet       Date:  1980-05       Impact factor: 11.025
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  21 in total

Review 1.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M R Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

2.  Medical genetics in Israel.

Authors:  R M Goodman; B Bonne-Tamir; A Adam; R Voss; G Bach; Y Shiloh; M B Katznelson; G Barkai; B Goldman; B Padeh
Journal:  J Med Genet       Date:  1989-03       Impact factor: 6.318

3.  Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.

Authors:  B Bonné-Tamir; A L DeStefano; C E Briggs; R Adair; B Franklyn; S Weiss; M Korostishevsky; M Frydman; C T Baldwin; L A Farrer
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

Review 4.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1991       Impact factor: 2.957

Review 5.  Menkes disease: recent advances and new aspects.

Authors:  Z Tümer; N Horn
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

6.  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

7.  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

8.  Refining the position of Wilson disease by linkage disequilibrium with polymorphic microsatellites.

Authors:  A M Bowcock; J Tomfohrde; J Weissenbach; B Bonne-Tamir; P St George-Hyslop; M Giagheddu; L L Cavalli-Sforza; L A Farrer
Journal:  Am J Hum Genet       Date:  1994-01       Impact factor: 11.025

9.  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

10.  Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus.

Authors:  E C Twist; L K Casaubon; M H Ruttledge; V S Rao; P M Macleod; J Radvany; Z Zhao; R N Rosenberg; L A Farrer; G A Rouleau
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318
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