Skip to main content
PMC home page
Archives of Disease in Childhood logoLink to Archives of Disease in Childhood
. 1990 Jul;65(7 Spec No):651–656. doi: 10.1136/adc.65.7_spec_no.651

Application of intragenic DNA probes in prenatal screening for retinoblastoma gene carriers in the United Kingdom.

Z O Onadim 1, C D Mitchell 1, P C Rutland 1, B G Buckle 1, M Jay 1, J L Hungerford 1, K Harper 1, J K Cowell 1
PMCID: PMC1590195  PMID: 1974756

Abstract

Restriction fragment length polymorphisms (RFLPs) in 55 families affected by retinoblastoma have been studied using recombinant DNA probes derived from within the retinoblastoma predisposition gene. Only six families were uninformative for any of the DNA polymorphisms. The remaining 49 families can be offered prenatal screening. No obligate recombinations between any of the polymorphic loci and the retinoblastoma phenotype were observed. Four previously unknown cases of non-penetrance were identified. Prenatal testing for the inheritance of mutant alleles was performed in two cases and perinatal screening in two additional cases. One fetus inherited the normal allele from the affected parent and is therefore not at risk of retinoblastoma; the second fetus inherited the mutant allele and will require frequent screening for early detection of retinoblastoma. Both perinatal tests showed the absence of the mutant allele.

Full text

PDF
655

Images in this article

654Figure 3
on p.654
654Figure 4
on p.654

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Abramson D. H., Ellsworth R. M., Kitchin F. D., Tung G. Second nonocular tumors in retinoblastoma survivors. Are they radiation-induced? Ophthalmology. 1984 Nov;91(11):1351–1355. doi: 10.1016/s0161-6420(84)34127-6. [DOI] [PubMed] [Google Scholar]
  2. Attwood J., Bryant S. A computer program to make linkage analysis with LIPED and LINKAGE easier to perform and less prone to input errors. Ann Hum Genet. 1988 Jul;52(Pt 3):259–259. doi: 10.1111/j.1469-1809.1988.tb01103.x. [DOI] [PubMed] [Google Scholar]
  3. Bergren W. G., Donnell G. N. A new variant of galactose-1-phosphate uridyltransferase in man: the Los Angeles variant. Ann Hum Genet. 1973 Jul;37(1):1–8. doi: 10.1111/j.1469-1809.1973.tb01808.x. [DOI] [PubMed] [Google Scholar]
  4. Cavenee W. K., Murphree A. L., Shull M. M., Benedict W. F., Sparkes R. S., Kock E., Nordenskjold M. Prediction of familial predisposition to retinoblastoma. N Engl J Med. 1986 May 8;314(19):1201–1207. doi: 10.1056/NEJM198605083141901. [DOI] [PubMed] [Google Scholar]
  5. Cavenee W., Leach R., Mohandas T., Pearson P., White R. Isolation and regional localization of DNA segments revealing polymorphic loci from human chromosome 13. Am J Hum Genet. 1984 Jan;36(1):10–24. [PMC free article] [PubMed] [Google Scholar]
  6. Connolly M. J., Payne R. H., Johnson G., Gallie B. L., Allderdice P. W., Marshall W. H., Lawton R. D. Familial, EsD-linked, retinoblastoma with reduced penetrance and variable expressivity. Hum Genet. 1983;65(2):122–124. doi: 10.1007/BF00286647. [DOI] [PubMed] [Google Scholar]
  7. Cowell J. K., Jay M., Rutland P., Hungerford J. An assessment of the usefulness of electrophoretic variants of esterase-D in the antenatal diagnosis of retinoblastoma in the United Kingdom. Br J Cancer. 1987 Jun;55(6):661–664. doi: 10.1038/bjc.1987.135. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Cowell J. K., Rutland P., Jay M., Hungerford J. Deletions of the esterase D locus from a survey of 200 retinoblastoma patients. Hum Genet. 1986 Feb;72(2):164–167. doi: 10.1007/BF00283938. [DOI] [PubMed] [Google Scholar]
  9. Dryja T. P., Cavenee W., White R., Rapaport J. M., Petersen R., Albert D. M., Bruns G. A. Homozygosity of chromosome 13 in retinoblastoma. N Engl J Med. 1984 Mar 1;310(9):550–553. doi: 10.1056/NEJM198403013100902. [DOI] [PubMed] [Google Scholar]
  10. Dunn J. M., Phillips R. A., Becker A. J., Gallie B. L. Identification of germline and somatic mutations affecting the retinoblastoma gene. Science. 1988 Sep 30;241(4874):1797–1800. doi: 10.1126/science.3175621. [DOI] [PubMed] [Google Scholar]
  11. Feinberg A. P., Vogelstein B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem. 1983 Jul 1;132(1):6–13. doi: 10.1016/0003-2697(83)90418-9. [DOI] [PubMed] [Google Scholar]
  12. Friend S. H., Bernards R., Rogelj S., Weinberg R. A., Rapaport J. M., Albert D. M., Dryja T. P. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature. 1986 Oct 16;323(6089):643–646. doi: 10.1038/323643a0. [DOI] [PubMed] [Google Scholar]
  13. Gallie B. L., Ellsworth R. M., Abramson D. H., Phillips R. A. Retinoma: spontaneous regression of retinoblastoma or benign manifestation of the mutation? Br J Cancer. 1982 Apr;45(4):513–521. doi: 10.1038/bjc.1982.87. [DOI] [PMC free article] [PubMed] [Google Scholar]
  14. Halloran S. L., Boughman J. A., Dryja T. P., Mukai S., Long D., Roberts D. F., Craft A. W. Accuracy of detection of the retinoblastoma gene by esterase D linkage. Arch Ophthalmol. 1985 Sep;103(9):1329–1331. doi: 10.1001/archopht.1985.01050090081036. [DOI] [PubMed] [Google Scholar]
  15. Higgins M. J., Hansen M. F., Cavenee W. K., Lalande M. Molecular detection of chromosomal translocations that disrupt the putative retinoblastoma susceptibility locus. Mol Cell Biol. 1989 Jan;9(1):1–5. doi: 10.1128/mcb.9.1.1. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Jay M., Cowell J., Hungerford J. Register of retinoblastoma: preliminary results. Eye (Lond) 1988;2(Pt 1):102–105. doi: 10.1038/eye.1988.21. [DOI] [PubMed] [Google Scholar]
  17. Knudson A. G., Jr Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A. 1971 Apr;68(4):820–823. doi: 10.1073/pnas.68.4.820. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. McGee T. L., Yandell D. W., Dryja T. P. Structure and partial genomic sequence of the human retinoblastoma susceptibility gene. Gene. 1989 Aug 1;80(1):119–128. doi: 10.1016/0378-1119(89)90256-4. [DOI] [PubMed] [Google Scholar]
  19. Mitchell C. D., Cowell J. K. Predisposition to retinoblastoma due to a translocation within the 4.7R locus. Oncogene. 1989 Feb;4(2):253–257. [PubMed] [Google Scholar]
  20. Mitchell C., Nicolaides K., Kingston J., Hungerford J., Jay M., Cowell J. Prenatal exclusion of hereditary retinoblastoma. Lancet. 1988 Apr 9;1(8589):826–826. doi: 10.1016/s0140-6736(88)91687-x. [DOI] [PubMed] [Google Scholar]
  21. Mukai S., Rapaport J. M., Shields J. A., Augsburger J. J., Dryja T. P. Linkage of genes for human esterase D and hereditary retinoblastoma. Am J Ophthalmol. 1984 Jun;97(6):681–685. doi: 10.1016/0002-9394(84)90497-5. [DOI] [PubMed] [Google Scholar]
  22. Ott J. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies. Am J Hum Genet. 1974 Sep;26(5):588–597. [PMC free article] [PubMed] [Google Scholar]
  23. Sanders B. M., Jay M., Draper G. J., Roberts E. M. Non-ocular cancer in relatives of retinoblastoma patients. Br J Cancer. 1989 Sep;60(3):358–365. doi: 10.1038/bjc.1989.285. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Southern E. M. Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol. 1975 Nov 5;98(3):503–517. doi: 10.1016/s0022-2836(75)80083-0. [DOI] [PubMed] [Google Scholar]
  25. Sparkes R. S., Murphree A. L., Lingua R. W., Sparkes M. C., Field L. L., Funderburk S. J., Benedict W. F. Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D. Science. 1983 Feb 25;219(4587):971–973. doi: 10.1126/science.6823558. [DOI] [PubMed] [Google Scholar]
  26. Sparkes R. S., Sparkes M. C., Wilson M. G., Towner J. W., Benedict W., Murphree A. L., Yunis J. J. Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14. Science. 1980 May 30;208(4447):1042–1044. doi: 10.1126/science.7375916. [DOI] [PubMed] [Google Scholar]
  27. Strong L. C., Riccardi V. M., Ferrell R. E., Sparkes R. S. Familial retinoblastoma and chromosome 13 deletion transmitted via an insertional translocation. Science. 1981 Sep 25;213(4515):1501–1503. doi: 10.1126/science.7280668. [DOI] [PubMed] [Google Scholar]
  28. Vogel F. Genetics of retinoblastoma. Hum Genet. 1979 Nov 1;52(1):1–54. doi: 10.1007/BF00284597. [DOI] [PubMed] [Google Scholar]

Articles from Archives of Disease in Childhood are provided here courtesy of BMJ Publishing Group

RESOURCES