Molecular etiology of low-penetrance retinoblastoma in two pedigrees

Am J Hum Genet. 1993 Jun;52(6):1122-8.


In one family with low-penetrance retinoblastoma, a germ-line deletion is shared by affected and unaffected, obligate carriers. The deletion encompasses exon 4 of the retinoblastoma gene and corresponds to a mutant protein without residues 127-166. In a second family, RFLP analysis shows that two distant relatives have independently derived mutations. These families, together with others reported elsewhere, indicate that attributes of alleles at the retinoblastoma locus specify penetrance.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • DNA, Single-Stranded
  • Female
  • Gene Deletion
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Retinoblastoma / genetics*


  • DNA, Single-Stranded