Complete genomic sequence of the human retinoblastoma susceptibility gene

Genomics. 1993 Sep;17(3):535-43. doi: 10.1006/geno.1993.1368.


A 180,388-bp contig encompassing the human retinoblastoma gene was sequenced in its entirety. Partial analysis of the sequence revealed (1) a high (A+T)/(G+C) ratio and a high density of Line-1 (L1) repeat sequences, suggesting that the locus maps to G-bands 13q14.12 or 13q14.2; (2) Alu repeats that are asymmetrically oriented over a region extending 87 kb; (3) an overabundance of non-Alu-associated poly(A) tracts 10 bp or larger oriented in the antisense rather than the sense direction (36 vs 6); (4) an Alu sequence nested within an L1 repeat, indicating that the expansion of L1 repeats predates at least some of the Alu expansions; (5) at least three newly discovered microsatellite polymorphisms, one of which was subsequently found to be identical to a polymorphism in a microsatellite-based linkage map of the human genome published by another group; and (6) the basis of previously discovered intragenic RFLPs. This sequence should enhance studies of this locus and of the organization of the human genome.

Publication types

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

MeSH terms

  • Base Sequence
  • Chromosome Mapping
  • Cloning, Molecular
  • DNA / genetics*
  • DNA, Satellite / genetics
  • Genes, Retinoblastoma*
  • Humans
  • Molecular Sequence Data
  • Poly A / genetics
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Polymorphism, Restriction Fragment Length
  • Repetitive Sequences, Nucleic Acid


  • DNA, Satellite
  • Poly A
  • DNA

Associated data

  • GENBANK/L11910