Literature DB >> 8128965

Further refinement of the location for autosomal dominant retinitis pigmentosa on chromosome 7p (RP9).

C F Inglehearn1, T J Keen, M al-Maghtheh, C Y Gregory, M R Jay, A T Moore, A C Bird, S S Bhattacharya.   

Abstract

A form of autosomal dominant retinitis pigmentosa (adRP) mapping to chromosome 7p was recently reported by this laboratory, in a single large family from southeastern England. Further sampling of the family and the use a number of genetic markers from 7p have facilitated the construction of a series of multipoint linkage maps of the region with the most likely disease gene location. From this and haplotype data, the locus can now be placed between the markers D7S484 and D7S526, in an interval estimated to be 1.6-4 cM. Genetic distances between the markers previously reported to be linked to this region and those described in the recent whole-genome poly-CA map were estimated from data in this and other families. These data should assist in the construction of a physical map of the region and will help to identify candidate genes for the 7p adRP locus.

Entities:  

Mesh：

Substances：

Year:  1994        PMID： 8128965      PMCID： PMC1918098     

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


  19 in total

1.  A second-generation linkage map of the human genome.

Authors:  J Weissenbach; G Gyapay; C Dib; A Vignal; J Morissette; P Millasseau; G Vaysseix; M Lathrop
Journal:  Nature       Date:  1992-10-29       Impact factor: 49.962

2.  Strategies for characterizing highly polymorphic markers in human gene mapping.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

3.  Dinucleotide repeat polymorphisms at the D7S435 and D7S440 loci.

Authors:  J L Weber; A E Kwitek; P E May
Journal:  Nucleic Acids Res       Date:  1990-07-11       Impact factor: 16.971

4.  A computer program to make linkage analysis with LIPED and LINKAGE easier to perform and less prone to input errors.

Authors:  J Attwood; S Bryant
Journal:  Ann Hum Genet       Date:  1988-07       Impact factor: 1.670

5.  A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.

Authors:  T P Dryja; T L McGee; E Reichel; L B Hahn; G S Cowley; D W Yandell; M A Sandberg; E L Berson
Journal:  Nature       Date:  1990-01-25       Impact factor: 49.962

6.  Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.

Authors:  J Wells; J Wroblewski; J Keen; C Inglehearn; C Jubb; A Eckstein; M Jay; G Arden; S Bhattacharya; F Fitzke
Journal:  Nat Genet       Date:  1993-03       Impact factor: 38.330

7.  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

8.  Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study.

Authors:  A T Moore; F Fitzke; M Jay; G B Arden; C F Inglehearn; T J Keen; S S Bhattacharya; A C Bird
Journal:  Br J Ophthalmol       Date:  1993-08       Impact factor: 4.638

9.  A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa.

Authors:  C F Inglehearn; T J Keen; R Bashir; M Jay; F Fitzke; A C Bird; A Crombie; S Bhattacharya
Journal:  Hum Mol Genet       Date:  1992-04       Impact factor: 6.150

10.  A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.

Authors:  C F Inglehearn; S A Carter; T J Keen; J Lindsey; A M Stephenson; R Bashir; M al-Maghtheh; A T Moore; M Jay; A C Bird
Journal:  Nat Genet       Date:  1993-05       Impact factor: 38.330
View more
  9 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.  Ophthalmic genetics: a genealogical guide to sources in England and Wales.

Authors:  M Jay
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318

Review 3.  Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.

Authors:  P J Rosenfeld; V A McKusick; J S Amberger; T P Dryja
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

4.  Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21.

Authors:  Y Y Shugart; P Banerjee; J A Knowles; C A Lewis; S G Jacobson; T C Matise; G Penchaszadeh; T C Gilliam; J Ott
Journal:  Am J Hum Genet       Date:  1995-08       Impact factor: 11.025

5.  Loci for autosomal dominant retinitis pigmentosa and dominant cystoid macular dystrophy on chromosome 7p are not allelic.

Authors:  C Inglehearn; T J Keen; M al-Maghtheh; S Bhattacharya
Journal:  Am J Hum Genet       Date:  1994-09       Impact factor: 11.025

6.  Genetic mapping of the human amphiphysin gene (AMPH) at 7p14-p13 excludes its involvement in retinitis pigmentosa 9 or dominant cystoid macular dystrophy.

Authors:  R Yamamoto; X Li; U Francke; M W Kilimann
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

7.  Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa.

Authors:  T L Kojis; C Heinzmann; P Flodman; J T Ngo; R S Sparkes; M A Spence; J B Bateman; J R Heckenlively
Journal:  Am J Hum Genet       Date:  1996-02       Impact factor: 11.025

8.  Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy.

Authors:  F C Mansergh; P F Kenna; G Rudolph; T Meitinger; G J Farrar; R Kumar-Singh; J Scorer; A M Hally; L Mynett-Johnson; M M Humphries
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318

9.  Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

Authors:  James S Friedman; Joseph W Ray; Naushin Waseem; Kory Johnson; Matthew J Brooks; Therése Hugosson; Debra Breuer; Kari E Branham; Daniel S Krauth; Sara J Bowne; Lori S Sullivan; Vesna Ponjavic; Lotta Gränse; Ritu Khanna; Edward H Trager; Linn M Gieser; Dianna Hughbanks-Wheaton; Radu I Cojocaru; Noor M Ghiasvand; Christina F Chakarova; Magnus Abrahamson; Harald H H Göring; Andrew R Webster; David G Birch; Goncalo R Abecasis; Yang Fann; Shomi S Bhattacharya; Stephen P Daiger; John R Heckenlively; Sten Andréasson; Anand Swaroop
Journal:  Am J Hum Genet       Date:  2009-06       Impact factor: 11.025
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.