Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p

James A. Knowles, Yin Shugart, Poulabi Banerjee, T. Conrad Gilliam, Charles A. Lewis, Samuel G. Jacobson, Jurg Ott

Research output: Contribution to journalArticle

Abstract

We performed a genomic search for linkage to autosomal recessive retinitis pigmentosa in a large pedigree obtained from the Dominican Republic using microsatellite markers. Regions of the genome known to contain genes for retinitis pigmentosa were preferentially tested. One of these regions, on chromosome 6p, which contains the gene for peripherin, gave positive lod scores. Use of a mononucleotide repeat polymorphism in the peripherin gene excluded this locus. Two- and multi-point analyses suggest that the most likely location for the disease gene is near D6S291, which is located approximately 20 centimorgans telomeric from peripherin.

Original languageEnglish (US)
Pages (from-to)1401-1403
Number of pages3
JournalHuman Molecular Genetics
Volume3
Issue number8
StatePublished - Aug 1994
Externally publishedYes

Fingerprint

Peripherins
Retinitis Pigmentosa
Chromosomes
Chromosome
Locus
Genes
Gene
Distinct
Dominican Republic
Lod Score
Microsatellites
Pedigree
Polymorphism
Microsatellite Repeats
Linkage
Genomics
Genome
Likely

ASJC Scopus subject areas

  • Genetics
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)

Cite this

Knowles, J. A., Shugart, Y., Banerjee, P., Gilliam, T. C., Lewis, C. A., Jacobson, S. G., & Ott, J. (1994). Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. Human Molecular Genetics, 3(8), 1401-1403.

Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. / Knowles, James A.; Shugart, Yin; Banerjee, Poulabi; Gilliam, T. Conrad; Lewis, Charles A.; Jacobson, Samuel G.; Ott, Jurg.

In: Human Molecular Genetics, Vol. 3, No. 8, 08.1994, p. 1401-1403.

Research output: Contribution to journalArticle

Knowles, JA, Shugart, Y, Banerjee, P, Gilliam, TC, Lewis, CA, Jacobson, SG & Ott, J 1994, 'Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p', Human Molecular Genetics, vol. 3, no. 8, pp. 1401-1403.
Knowles JA, Shugart Y, Banerjee P, Gilliam TC, Lewis CA, Jacobson SG et al. Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. Human Molecular Genetics. 1994 Aug;3(8):1401-1403.
Knowles, James A. ; Shugart, Yin ; Banerjee, Poulabi ; Gilliam, T. Conrad ; Lewis, Charles A. ; Jacobson, Samuel G. ; Ott, Jurg. / Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. In: Human Molecular Genetics. 1994 ; Vol. 3, No. 8. pp. 1401-1403.
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