Skip to main content

Advertisement

Log in

Autosomal dominant retinitis pigmentosa: a new multi-allelic marker (D3S621) genetically linked to the disease locus (RP4)

  • Original investigations
  • Published:
Human Genetics Aims and scope Submit manuscript

Summary

We report the characterization of a new eightallele microsatellite (D3S621) isolated from a human chromosome 3 library. Two-point and multi-locus genetic linkage analysis have shown D3S621 to co-segregate with the previously mapped RP4 (θ m=0.12, Z m=4.34) and with other genetic markers on the long arm of the chromosome, including D3S14 (R208) (θ m=0.00, Z m= 15.10), D3S47 (C17) (θ m=0.11, Z m=4.95), Rho (θ m= 0.07, Z m=1.37), D3S21 (L182) (θ m=0.07, Z m=2.40) and D3S19 (U1) (θ m=0.13, Z m=2.78). This highly informative marker, with a polymorphic information content of 0.78, should be of considerable value in the extension of linkage data for autosomal dominant retinitis pigmentosa with respect to locii on the long arm of chromosome 3.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Attwood J, Bryant S (1988) A computer programme to make analysis with LIPED and LINKAGE easier to perform and less prone to input errors. Ann Hum Genet 52:259

    Google Scholar 

  • Botstein D, White RL, Skolnick M, Davis RW (1980) Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet 32:314–331

    CAS  PubMed  Google Scholar 

  • Boughman JA, Connealy PM, Nance WE (1980) Population genetic studies of retinitis pigmentosa. Am J Hum Genet 32:223–235

    Google Scholar 

  • Bradley DG, Farrar GJ, Sharp EM, Kenna P, Humphries MM, McConnell DJ, Daiger SP, McWilliam P, Humphries P (1989) Autosomal dominant retinitis pigmentosa: exclusion of the gene from the short arm of chromosome 1 including the region surrounding the rhesus locus. Am J Hum Genet 44:570–576

    Google Scholar 

  • Bundey S, Crews SJ (1984) A study of retinitis pigmentosa in the city of Birmingham. II. Prevalence. J Med Genet 21:417–420

    Google Scholar 

  • Bunker CH, Berson EL, Bromley WC, Hayes BA, Roderick TH (1984) Prevalence of retinitis pigmentosa in Maine. Am J Hum Genet 97:357–365

    Google Scholar 

  • Donis-Keller H, Green P, Helms C, Cartinhour S, Weiffenbach B, Stephens K, Keith TP, Bowden DW, Smith DR, Lander ES, Botstein D, Akots G, Rediker KS, Gravius T, Brown VA, Rising MB, Parker C, Powers JA, Watt DE, Kauffman ER, Bricker A, Phipps P, Muller-Kahle H, Fulton TR, Ng S, Schumm JW, Braman JC, Knowlton RG, Barker DF, Crooks SM, Lincoln SE, Daly MJ, Abrahamson J (1987) A genetic linkage map of the human genome. Cell 51:319–337

    Google Scholar 

  • Dryja TP, McGee TL, Reichel E, Hahn LB, Cowley GS, Yandell DW, Sandberg MA, Berson EL (1990) A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature 343:364–366

    Google Scholar 

  • Farber MD, Fishman GA, Weiss RW (1985) Autosomal dominantly inherited retinitis pigmentosa: visual loss by subtype. Arch Opthalmol 103:524–528

    Google Scholar 

  • Farrar GJ, McWilliam P, Bradley DG, Kenna P, Sharp EM, Humphries MM, Lawler M, Eiberg H, Heckenlively JR, Conneally MP, Trofatter JA, Daiger SP, Humphries P (1990a) Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity. Genomics 8:35–40

    Google Scholar 

  • Farrar GJ, Kenna P, Redmond R, McWilliam P, Bradley D, Humphries MM, Sharp EM, Humphries P (1990b) Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline→histidine substitution (codon 23) in pedigrees from Europe. Am J Hum Genet (in press)

  • Hamada H, Petrino MG, Kakunaga T (1982) A novel repeated element with Z-DNA forming potential is widely found in evolutionarily diverse eukaryotic genomes. Proc Natl Acad Sci USA 79:6465–6469

    CAS  PubMed  Google Scholar 

  • Heckenlively JR (1988) Retinitis pigmentosa. Lippincott, Philadelphia, pp 125–149

    Google Scholar 

  • Humphries P, Russel SEH, McWilliam P, McQuaid S, Pearson C, Humphries MM (1987) Observations on the structure of two 7SK pseudogenes and on homologous transcripts in vertebrate species. Biochem J 245:281–284

    Google Scholar 

  • Lathrop GM, Lalouel JM, Julier C, Ott J (1984) Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443–3446

    Google Scholar 

  • Litt M, Luty JA (1989) A hypervariable microsatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. Am J Hum Genet 44:397–401

    Google Scholar 

  • Massof RW, Finkelstein D (1981) Two forms of autosomal dominant primary retinitis pigmentosa. Doc Opthalmol 51:289–346

    Google Scholar 

  • Matsunaga N, Lin Y (1977) Studies on the clinical aspect, etiology and epidemiology of retinitis pigmentosa. Annual report of retinitis pigmentosa study group. Ministry of Health and Welfare, Government of Japan, pp 119–125

  • McWilliam P, Farrar GJ, Kenna P, Bradley DG, Humphries MM, Sharp EM, McConnell DJ, Lawler M, Sheils D, Ryan C, Stevens K, Daiger SP, Humphries P (1989) Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3. Genomics 5:619–622

    Google Scholar 

  • Miesfeld R, Krystal M, Arnheim N (1981) A member of a new repeated sequence family which is conserved throughout eukaryotic evolution is found between the human delta and beta globin genes. Nucleic Acids Res 9:5931–5947

    Google Scholar 

  • Olsson JE, Samanns C, Jimenez J, Pongratz J, Chand A, Watty A, Seuchter SA, Denton M, Gal A (1990) Gene of type II autosomal dominant retinitis pigmentosa maps on the long arm of chromosome 3. Am J Med Genet (in press)

  • Ott J (1974) Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet 26:588–597

    Google Scholar 

  • Sun L, Paulson KE, Schmid CW, Kadyk L, Leinwand L (1984) Non-Alu family interspersed repeats in human DNA and their transcriptional activity. Nucleic Acids Res 12:2669–2690

    Google Scholar 

  • Tautz D, Renz M (1984) Simple sequences are ubiquitious repetiive components of eukaryotic genomes. Nucleic Acids Res 12:4127–4138

    Google Scholar 

  • Weber JL, May PE (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 44:388–396

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Kumar-Singh, R., Bradley, D.G., Farrar, G.J. et al. Autosomal dominant retinitis pigmentosa: a new multi-allelic marker (D3S621) genetically linked to the disease locus (RP4). Hum Genet 86, 502–504 (1991). https://doi.org/10.1007/BF00194642

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00194642

Keywords

Navigation