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Literature DB >> 7120314

Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa.

L L Field, J R Heckenlively, R S Sparkes, C A Garcia, C Farson, D Zedalis, M C Sparkes, M Crist, S Tideman, M A Spence.

Abstract

Five pedigrees (including an expanded version of a previously reported pedigree) exhibited typical autosomal dominant retinitis pigmentosa were analysed for linkage of RP to 29 genetic markers. No significant lod scores resulted. The largest lod score is +1.51 and suggests linkage between RP and Rh blood group at an estimated recombination fraction of 20% in males and 40% in females. Further studies are needed to confirm or refute this suggested linkage.

Entities: Disease

Mesh：

Year: 1982 PMID： 7120314 PMCID： PMC1048891 DOI： 10.1136/jmg.19.4.266

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

6 in total

1. The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type.

Authors: N E MORTON
Journal: Am J Hum Genet Date: 1956-06 Impact factor: 11.025

2. Linkage studies of typical retinitis pigmentosa and common markers.

Authors: I Hussels-Maumenee; E R Pierce; W B Bias; D A Schleutermann
Journal: Am J Hum Genet Date: 1975-07 Impact factor: 11.025

3. A computer program for linkage analysis of general human pedigrees.

Authors: J Ott
Journal: Am J Hum Genet Date: 1976-09 Impact factor: 11.025

4. Probable genetic linkage between autosomal dominant retinitis pigmentosa (RP) and amylase (AMY2): evidence of an RP locus on chromosome 1.

Authors: M A Spence; R S Sparkes; J R Heckenlively; J T Pearlman; D Zedalis; M Sparkes; M Crist; S Tideman
Journal: Am J Hum Genet Date: 1977-07 Impact factor: 11.025

Review 5. Report of the committee on the genetic constitution of chromosome 1.

Authors: P J Cook; J L Hamerton
Journal: Cytogenet Cell Genet Date: 1979

6. Retinitis pigmentosa.

Authors: S Merin; E Auerbach
Journal: Surv Ophthalmol Date: 1976 Mar-Apr Impact factor: 6.048

6 in total

9 in total

1. Linkage of internal minisatellite loci on chromosome 1 and exclusion of autosomal dominant retinitis pigmentosa proximal to rhesus.

Authors: C F Inglehearn; S S Papiha; M Jay; A F Wright; A T Moore; S S Bhattacharya
Journal: J Med Genet Date: 1990-01 Impact factor: 6.318

Review 2. Genetic factors modifying clinical expression of autosomal dominant RP.

Authors: Stephen P Daiger; Suma P Shankar; Alice B Schindler; Lori S Sullivan; Sara J Bowne; Terri M King; E Warick Daw; Edwin M Stone; John R Heckenlively
Journal: Adv Exp Med Biol Date: 2006 Impact factor: 2.622

3. A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa.

Authors: K Dietrich; F K Jacobi; S Tippmann; R Schmid; E Zrenner; B Wissinger; E Apfelstedt-Sylla
Journal: Br J Ophthalmol Date: 2002-03 Impact factor: 4.638

4. Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.

Authors: S J Bowne; S P Daiger; M M Hims; M M Sohocki; K A Malone; A B McKie; J R Heckenlively; D G Birch; C F Inglehearn; S S Bhattacharya; A Bird; L S Sullivan
Journal: Hum Mol Genet Date: 1999-10 Impact factor: 6.150

5. Autosomal dominant retinitis pigmentosa: exclusion of the gene from the short arm of chromosome 1 including the region surrounding the rhesus locus.

Authors: D G Bradley; G J Farrar; E M Sharp; P Kenna; M M Humphries; D J McConnell; S P Daiger; P McWilliam; P Humphries
Journal: Am J Hum Genet Date: 1989-04 Impact factor: 11.025