Literature DB >> 8863169

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

Z Mohamed1, C Bell, H M Hammer, C A Converse, L Esakowitz, N E Haites.   

Abstract

Retinitis pigmentosa is a group of hereditary retinopathies which is both clinically and genetically heterogeneous. Autosomal dominant (ADRP), autosomal recessive (ARRP), and X linked recessive (XLRP), as well as digenic forms of inheritance have been reported. ADRP has been linked to 3q, 6p, 7p, 7q, 8cen, 17p, 17q, and 19q. Three unrelated ADRP families have been reported to show linkage to 7q. We tested a Scottish ADRP family with microsatellite markers mapping within the 7q31-q35 region, and found three markers (D7S487, D7S514, D7S530) showing statistically significant evidence of linkage. A maximum two point lod score of 3.311 at 0% recombination was obtained for D7S514.

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Mesh：

Year:  1996        PMID： 8863169      PMCID： PMC1050711          DOI： 10.1136/jmg.33.8.714

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  14 in total

1.  Autosomal dominant retinitis pigmentosa (ADRP): a rhodopsin mutation in a Scottish family.

Authors:  C Bell; C A Converse; M F Collins; L Esakowitz; K F Kelly; N E Haites
Journal:  J Med Genet       Date:  1992-09       Impact factor: 6.318

2.  Efficient computations in multilocus linkage analysis.

Authors:  G M Lathrop; J M Lalouel
Journal:  Am J Hum Genet       Date:  1988-03       Impact factor: 11.025

3.  Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.

Authors:  K Kajiwara; L B Hahn; S Mukai; G H Travis; E L Berson; T P Dryja
Journal:  Nature       Date:  1991-12-12       Impact factor: 49.962

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.  Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.

Authors:  T P Dryja; T L McGee; L B Hahn; G S Cowley; J E Olsson; E Reichel; M A Sandberg; E L Berson
Journal:  N Engl J Med       Date:  1990-11-08       Impact factor: 91.245

6.  Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8.

Authors:  S H Blanton; J R Heckenlively; A W Cottingham; J Friedman; L A Sadler; M Wagner; L H Friedman; S P Daiger
Journal:  Genomics       Date:  1991-12       Impact factor: 5.736

7.  An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q.

Authors:  S Bardien; N Ebenezer; J Greenberg; C F Inglehearn; L Bartmann; R Goliath; P Beighton; R Ramesar; S S Bhattacharya
Journal:  Hum Mol Genet       Date:  1995-08       Impact factor: 6.150

8.  Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.

Authors:  L M Kunkel; A P Monaco; W Middlesworth; H D Ochs; S A Latt
Journal:  Proc Natl Acad Sci U S A       Date:  1985-07       Impact factor: 11.205

9.  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

10.  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
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  5 in total

1.  Evaluation of human diacylglycerol kinase(iota), DGKI, a homolog of Drosophila rdgA, in inherited retinopathy mapping to 7q.

Authors:  S J Bowne; L S Sullivan; L Ding; E Traer; S M Prescott; D G Birch; A Kennan; P Humphries; S P Daiger
Journal:  Mol Vis       Date:  2000-02-22       Impact factor: 2.367

2.  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

3.  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

4.  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 5.  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
  5 in total

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