Literature DB >> 7635473

An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q.

J M Millán1, F Martínez, C Vilela, M Beneyto, F Prieto, C Nájera.   

Abstract

Retinitis pigmentosa is the most prevalent inherited disorder of the retina. It can be autosomal dominant (adRP), autosomal recessive (arRP) or X-linked (XLRP). A form of adRP mapping to chromosome 7q was reported in a large Spanish pedigree. We have typed DNA from the members of another Spanish family for polymorphic markers from the known candidate genes. Positive lod scores were obtained only for the markers located on 7q31-35, giving a maximum lod score of 2.98 (3.01 by multipoint analysis) at theta = 0.00 for D7S480. A brief clinical evaluation is given.

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Year:  1995        PMID： 7635473     DOI： 10.1007/bf00207382

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


  6 in total

1.  The 1993-94 Généthon human genetic linkage map.

Authors:  G Gyapay; J Morissette; A Vignal; C Dib; C Fizames; P Millasseau; S Marc; G Bernardi; M Lathrop; J Weissenbach
Journal:  Nat Genet       Date:  1994-06       Impact factor: 38.330

2.  Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa.

Authors:  S Bunge; H Wedemann; D David; D J Terwilliger; L I van den Born; C Aulehla-Scholz; C Samanns; M Horn; J Ott; E Schwinger
Journal:  Genomics       Date:  1993-07       Impact factor: 5.736

3.  'Cold SSCP': a simple, rapid and non-radioactive method for optimized single-strand conformation polymorphism analyses.

Authors:  T Hongyo; G S Buzard; R J Calvert; C M Weghorst
Journal:  Nucleic Acids Res       Date:  1993-08-11       Impact factor: 16.971

4.  Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19.

Authors:  M al-Maghtheh; C F Inglehearn; T J Keen; K Evans; A T Moore; M Jay; A C Bird; S S Bhattacharya
Journal:  Hum Mol Genet       Date:  1994-02       Impact factor: 6.150

5.  A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17.

Authors:  J Greenberg; R Goliath; P Beighton; R Ramesar
Journal:  Hum Mol Genet       Date:  1994-06       Impact factor: 6.150

6.  Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q.

Authors:  S A Jordan; G J Farrar; P Kenna; M M Humphries; D M Sheils; R Kumar-Singh; E M Sharp; N Soriano; C Ayuso; J Benitez
Journal:  Nat Genet       Date:  1993-05       Impact factor: 38.330
  6 in total
  7 in total

1.  Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.

Authors:  T L McGee; M Devoto; J Ott; E L Berson; T P Dryja
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

2.  Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene.

Authors:  Petra Kozma; Dianna K Hughbanks-Wheaton; Kirsten G Locke; Garry E Fish; Anisa I Gire; Catherine J Spellicy; Lori S Sullivan; Sara J Bowne; Stephen P Daiger; David G Birch
Journal:  Am J Ophthalmol       Date:  2005-10-07       Impact factor: 5.258

3.  A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.

Authors:  E E Tarttelin; C Plant; J Weissenbach; A C Bird; S S Bhattacharya; C F Inglehearn
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

4.  A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity.

Authors:  C F Inglehearn; E E Tarttelin; C Plant; R E Peacock; M al-Maghtheh; E Vithana; A C Bird; S S Bhattacharya
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

5.  Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q.

Authors:  Z Mohamed; C Bell; H M Hammer; C A Converse; L Esakowitz; N E Haites
Journal:  J Med Genet       Date:  1996-08       Impact factor: 6.318

6.  Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.

Authors:  Sara J Bowne; Lori S Sullivan; Susan H Blanton; Constance L Cepko; Seth Blackshaw; David G Birch; Dianna Hughbanks-Wheaton; John R Heckenlively; Stephen P Daiger
Journal:  Hum Mol Genet       Date:  2002-03-01       Impact factor: 6.150

Review 7.  Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP.

Authors:  Stephen P Daiger; Lori S Sullivan; Sara J Bowne; Avril Kennan; Peter Humphries; David G Birch; John R Heckenlively
Journal:  Adv Exp Med Biol       Date:  2003       Impact factor: 2.622
  7 in total

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