Linkage Analysis of Five Pedigrees Affected with Typical Autosomal Dominant Retinitis Pigmentosa

Overview

Journal J Med Genet

Specialty Genetics

Date 1982 Aug 1

PMID 7120314

Citations 9

Authors

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

Affiliations

Soon will be listed here.

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.

Citing Articles

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Ali M, Rahman M, Cao J, Yuan P 3 Biotech. 2017; 7(4):251.

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Differential pattern of RP1 mutations in retinitis pigmentosa.

Zhang X, Chen L, Law J, Lai T, Chiang S, Tam P Mol Vis. 2010; 16:1353-60.

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Genetic factors modifying clinical expression of autosomal dominant RP.

Daiger S, Shankar S, Schindler A, Sullivan L, Bowne S, King T Adv Exp Med Biol. 2007; 572:3-8.

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

Daiger S, Sullivan L, Bowne S, Kennan A, Humphries P, Birch D Adv Exp Med Biol. 2004; 533:1-11.

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

Dietrich K, Jacobi F, Tippmann S, Schmid R, Zrenner E, Wissinger B Br J Ophthalmol. 2002; 86(3):328-32.

PMID: 11864893 PMC: 1771063. DOI: 10.1136/bjo.86.3.328.

References

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