Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family

Su Min Gu, Govindasamy Kumaramanickavel, C. R. Srikumari, Michael J. Denton, Andreas Gal

Research output: Contribution to journalArticle

25 Scopus citations

Abstract

Retinitis pigmentosa (RP) is a group of clinically and genetically heterogeneous disorders characterised by night blindness, constriction of visual field, and dystrophic changes of the retina. Previous genetic studies have shown extensive allelic and non-allelic genetic heterogeneity of RP. Here we describe an Indian family with multiple consanguineous marriages and a total of four patients with autosomal recessive (AR) RP. The homozygosity mapping strategy was successfully used and indicated close linkage between the disease locus and D2S380, D2S441, D2S291, and D2S1394 with maximum lod scores between 1.51-3.07 at 0 = 0.00. The analysis of multiply informative meioses maps the locus (RP28) for ARRP in this family between D1S1337 and D2S286 on 2p11-p15. The involvement of visinin (VSNL1), a promising candidate gene assigned to chromosome 2p by previous studies, has been excluded by the absence of linkage.

Original languageEnglish (US)
Pages (from-to)705-707
Number of pages3
JournalJournal of Medical Genetics
Volume36
Issue number9
StatePublished - Sep 24 1999
Externally publishedYes

Keywords

  • Chromosome 2p11-p15
  • Homozygosity mapping
  • RP28
  • Retinitis pigmentosa

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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