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

Z. O. Onadim, C. D. Mitchell, P. C. Rutland, B. G. Buckle, M. Jay, J. L. Hungerford, K. Harper, J. K. Cowell

Research output: Contribution to journalArticle

27 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)651-656
Number of pages6
JournalArchives of Disease in Childhood
Volume65
Issue number7 SPEC NO
DOIs
StatePublished - Jan 1 1990
Externally publishedYes

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

Cite this

Onadim, Z. O., Mitchell, C. D., Rutland, P. C., Buckle, B. G., Jay, M., Hungerford, J. L., Harper, K., & Cowell, J. K. (1990). Application of intragenic DNA probes in prenatal screening for retinoblastoma gene carriers in the United Kingdom. Archives of Disease in Childhood, 65(7 SPEC NO), 651-656. https://doi.org/10.1136/adc.65.7_Spec_No.651