ScholarLens Back to search
1982•Journal of Medical GeneticsOpen access

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

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

Open full text 29 citations

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.

Open-access reader

About this research paper

What this paper is about

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.

Why it matters

OpenAlex reports 29 citations for this work. Citation counts describe recorded attention and do not establish research quality.

Key contribution

A contribution statement is not available in the OpenAlex record.

Method / approach

Method details are not available in the OpenAlex metadata.

Main findings

Findings are not separately available in the OpenAlex metadata.

Limitations

Limitations are not available in the OpenAlex metadata.

Applications

Application details are not available in the OpenAlex metadata.

Available 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.

Key concepts: Pedigree chart, Retinitis pigmentosa, Recombination Fraction, Genetic linkage, Linkage (software), Genetics, Lod score, Biology

Related papers

Related paper 1Related paper 2
Back to paper searchBrowse research topicsOriginal source
Linkage analysis of five pedigrees affected with typical autosomal dominant retinitis pigmentosa. — Research Paper | ScholarLens