Identification of four novel RB1 germline mutations in Korean retinoblastoma patients

Hum Mutat. 2001 Sep;18(3):252. doi: 10.1002/humu.1184.


To elucidate RB1 germline mutations in Korean retinoblastoma patients, DNA samples from 14 children with bilateral (including three familial cases) and 19 children with unilateral retinoblastoma were analyzed. We found germline mutations in three out of 14 bilateral cases and one out of 19 unilateral cases. There were no germline mutations in the three familial cases. PCR-SSCP from each exon showed bandshifts in four patients which, upon sequencing, were shown to be K616E in exon 19 (c.1846A>G), an AA insertion in exon 7 (c.684-685insAA), R500G in exon 16 (c.1498A>G), and an A insertion in exon 23 (c.2391-2392insA), respectively. Hum Mutat 18:252, 2001.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 13 / genetics
  • DNA Mutational Analysis
  • DNA, Neoplasm / chemistry
  • DNA, Neoplasm / genetics
  • Female
  • Germ-Line Mutation
  • Humans
  • Korea
  • Loss of Heterozygosity
  • Male
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Retinoblastoma / genetics*
  • Retinoblastoma Protein / genetics*


  • DNA, Neoplasm
  • Retinoblastoma Protein