Literature DB >> 9600251

Refined genetic mapping of autosomal dominant retinitis pigmentosa locus RP18 reduces the critical region to 2 cM between D1S442 and D1S2858 on chromosome 1q.

S Y Xu1, T Rosenberg, A Gal.   

Abstract

Linkage analysis was performed on a large Danish family to refine the position of RP18, the locus for autosomal dominant retinitis pigmentosa, mapped previously between D1S534 and D1S305 in chromosome 1p13-q21. We genotyped the family members for five microsatellite-type DNA polymorphisms and mapped RP18 between D1S422 and D1S2858 to a region of less than 2 cM. No obvious candidate gene has yet been assigned to the chromosomal interval defined here.

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Year:  1998        PMID: 9600251     DOI: 10.1007/s004390050728

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  2 in total

Review 1.  Pre-mRNA splicing and retinitis pigmentosa.

Authors:  Daniel Mordes; Xiaoyan Luo; Amar Kar; David Kuo; Lili Xu; Kazuo Fushimi; Guowu Yu; Paul Sternberg; Jane Y Wu
Journal:  Mol Vis       Date:  2006-10-26       Impact factor: 2.367

2.  A new dominant retinitis pigmentosa family mapping to the RP18 locus on chromosome 1q11-21.

Authors:  C F Inglehearn; E E Tarttelin; T J Keen; S S Bhattacharya; A T Moore; R Taylor; A C Bird
Journal:  J Med Genet       Date:  1998-09       Impact factor: 6.318

  2 in total

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