Literature DB >> 2878872

Choroideremia: further evidence for assignment of the locus to Xq13-Xq21.

M Schwartz, T Rosenberg, E Niebuhr, C Lundsteen, H Sardemann, O Andersen, H M Yang, L U Lamm.   

Abstract

Choroideremia is an X-linked hereditary retinal dystrophy leading to blindness in early adulthood. RFLP analyses in three Danish families were consistent with close linkage between choroideremia and the locus DXYS1, located at Xq13-Xq21. Measurable linkage was found between choroideremia and DXS17, at Xq22. Furthermore, choroideremia was diagnosed in a boy with an interstitial deletion at Xq13-Xq21, strongly suggesting the assignment of the locus for choroideremia to this region of the X chromosome. The deletion also covered DXYS1, but did not include DXS17.

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Year:  1986        PMID： 2878872     DOI： 10.1007/bf00280505

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


  19 in total

1.  Inheritance of choroideremia.

Authors:  E WESTERLUND
Journal:  Acta Ophthalmol (Copenh)       Date:  1956

2.  Mapping X-linked ophthalmic diseases: II. Linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers.

Authors:  R L Nussbaum; R A Lewis; J G Lesko; R Ferrell
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  Choroideremia and the Xg locus: another look for linkage.

Authors:  A G Bell; J C McCulloch
Journal:  Clin Genet       Date:  1971       Impact factor: 4.438

4.  Choroideremia and the Xg blood group.

Authors:  A Other
Journal:  Acta Ophthalmol (Copenh)       Date:  1968

5.  Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution.

Authors:  D C Page; M E Harper; J Love; D Botstein
Journal:  Nature       Date:  1984 Sep 13-19       Impact factor: 49.962

6.  The parental origin of X chromosomes in XX males determined using restriction fragment length polymorphisms.

Authors:  D C Page; A de la Chapelle
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

7.  Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms.

Authors:  D Drayna; K Davies; D Hartley; J L Mandel; G Camerino; R Williamson; R White
Journal:  Proc Natl Acad Sci U S A       Date:  1984-05       Impact factor: 11.205

8.  The genetic linkage map of the human X chromosome.

Authors:  D Drayna; R White
Journal:  Science       Date:  1985-11-15       Impact factor: 47.728

9.  Linkage between the X-linked retinitis pigmentosa locus and the L1.28 locus.

Authors:  S Mukai; T P Dryja; G A Bruns; J F Aldridge; E L Berson
Journal:  Am J Ophthalmol       Date:  1985-08-15       Impact factor: 5.258

10.  Choroideremia. Study of a family and literature review.

Authors:  M L Rubin; R S Fishman; R A McKay
Journal:  Arch Ophthalmol       Date:  1966-10
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  16 in total

1.  A deletion panel of the long arm of the X chromosome: subregional localization of 22 DNA probes.

Authors:  H M Yang; T Lund; E Niebuhr; S Nørby; M Schwartz; L Shen
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

2.  Linkage studies and deletion screening in choroideremia.

Authors:  A F Wright; R L Nussbaum; S S Bhattacharya; M Jay; J G Lesko; H J Evans; B Jay
Journal:  J Med Genet       Date:  1990-08       Impact factor: 6.318

3.  Derivation of clones from the choroideremia locus by preparative field inversion gel electrophoresis.

Authors:  T J van de Pol; F P Cremers; R M Brohet; B Wieringa; H H Ropers
Journal:  Nucleic Acids Res       Date:  1990-02-25       Impact factor: 16.971

4.  Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands.

Authors:  L Colleaux; M May; J Belougne; D Lepaslier; C Schwartz; M Fontes
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

5.  Haplotype and multipoint linkage analysis in Finnish choroideremia families.

Authors:  E M Sankila; T Lehner; A W Eriksson; H Forsius; J Kärnä; D Page; J Ott; A de la Chapelle
Journal:  Hum Genet       Date:  1989-12       Impact factor: 4.132

6.  Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases.

Authors:  F P Cremers; E M Sankila; F Brunsmann; M Jay; B Jay; A Wright; A J Pinckers; M Schwartz; D J van de Pol; B Wieringa
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025

Review 7.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

8.  Isolation of a candidate gene for choroideremia.

Authors:  D E Merry; P A Jänne; J E Landers; R A Lewis; R L Nussbaum
Journal:  Proc Natl Acad Sci U S A       Date:  1992-03-15       Impact factor: 11.205

9.  Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation.

Authors:  R L Nussbaum; J G Lesko; R A Lewis; S A Ledbetter; D H Ledbetter
Journal:  Proc Natl Acad Sci U S A       Date:  1987-09       Impact factor: 11.205

10.  Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.

Authors:  F P Cremers; T J van de Pol; B Wieringa; M H Hofker; P L Pearson; R A Pfeiffer; M Mikkelsen; A Tabor; H H Ropers
Journal:  Am J Hum Genet       Date:  1988-10       Impact factor: 11.025
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