Summary
The gene locus for hereditary retinoblastoma is on human chromosome 13, band q14. With this gene localization in mind, we cloned DNA fragments from this chromosome. Three of the fragments identify restriction fragment length polymorphisms. These three fragments are from the region 13q12–13q22, the chromosome region which contains the retinoblastoma locus. We expect that these restriction fragment length polymorphisms will be linked to the retinoblastoma locus, and that they will serve in certain retinoblastoma families as predictors of retinoblastoma gene carriers.They will also be useful in studies of other gene loci thought to be on chromosome 13.
Similar content being viewed by others
References
Aldridge J, Kunkel LM, Bruns GAP, Tantravahi U, Lalande M, Brewster T, Moreau E, Wilson M, Bromley B,Roderick T, Latt SA (to be published) A strategy to reveal high frequency RFLP's along the human X chromosome. Am J Hum Genet
Antonarakis SE, Boehm CD, Giardina PJV, Kazazian HH (1982) Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster. Proc Natl Acad Sci USA 79:137–141
Botstein D, White RL, Skolnick MH, Davis RW (1980) Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet32:314–331
Bruns GAP, Mintz BJ, Leary AC, Regina VM, Gerald PS (1979) Human lysosomal genes: Arylsulsulfatase A and beta-galactosidase. Biochem Genet 17:1031–1059
Dryja TP, Bruns GAP, Orkin SH, Albert DM, Gerald PS (1983) Isolation of DNA fragments from chromosome 13. Retina 3: 121–125
Gusella JF, Keys C, Varsanyi-Breiner A, Kao FT, Jones C, Puck TT, Housman D (1980) Isolation and localization of DNA segments from specific human chromosomes. Proc Natl Acad Sci USA 77:2829–2833
Kunkel LM, Smith KD, Boyer SH, Borgaonkar DS, Wachtel SS, Miller OJ, Breg WR, Jones HW, Rary JM (1977) Analysis of human Y-chromosome specific reiterated DNA in chromosomal variants. Proc Natl Acad Sci USA 74:1245–1249
Latt SA, Willard HF, Gerald PS (1976) BrdU-33258 Hoechst analysis of DNA replication in human lymphocytes with supernumerary or structurally abnormal X chromosomes. Chromosoma 57: 135–153
Maynard-Smith S, Penrose LS, Smith CAB (1962) Mathematical tables for research workers in human genetics. Little Brown. Boston
Mendelsohn ML, Mayall BH, Bogart E, Moore DH, Perry BH (1973) DNA content and DNA-based centromeric index of the 24 human chromosomes. Science179:1126–1129
Mohandas T, Shapiro LJ, Sparkes RS, Sparkes MC (1979) Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: Implications for a noninactivated region on the short arm of human X chromosome. Proc Natl Acad Sci USA 76:5779–5783
Neve RL, Bruns GAP, Dryja TP, Kurnit DH (1983) Retrieval by recombination of human DNA from rodent-human genomic libraries. Gene 23:343–354
Seed B (1983) Purification of genomic sequences from bacteriophage libraries by recombination and selection in vivo. Nucleic Acids Res 11:2427–2445
Southern EM (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98: 503–517
Sparkes RS,Sparkes MC, Wilson MG, Towner JW, Benedict W, Murphree AL, Yunis JJ (1980) Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14. Science 208:1042–1044
Sparkes RS, Murphree AL, Lingua RW, Sparkes MC, Field LL, Funderburk SJ, Benedict WF (1983) Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D. Science 219:971–973
Vogel F (1979) Genetics of retinoblastoma. Hum Genet 52:1–54
Author information
Authors and Affiliations
Additional information
This research was supported by grants from the National Institutes of Health HD04807, CA29883, and EY04543, by a grant from Fight for Sight, Inc., New York City, and by the Anna Fuller Fund
Rights and permissions
About this article
Cite this article
Dryja, T.P., Rapaport, J.M., Weichselbaum, R. et al. Chromosome 13 restriction fragment length polymorphisms. Hum Genet 65, 320–324 (1984). https://doi.org/10.1007/BF00291555
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1007/BF00291555