Identification of four novel RB1 germline mutations in Korean retinoblastoma patients
Copyright policy )Identification of four novel RB1 germline mutations in Korean retinoblastoma patients
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.
- Seoul National University Hospital Korea (Republic of)
- National Cancer Center United States
- New Generation University College Ethiopia
- Seoul National University Korea (Republic of)
Male, Korea, Chromosomes, Human, Pair 13, DNA Mutational Analysis, Retinoblastoma, Loss of Heterozygosity, DNA, Neoplasm, Polymerase Chain Reaction, Retinoblastoma Protein, Humans, Female, Germ-Line Mutation, Polymorphism, Single-Stranded Conformational
Male, Korea, Chromosomes, Human, Pair 13, DNA Mutational Analysis, Retinoblastoma, Loss of Heterozygosity, DNA, Neoplasm, Polymerase Chain Reaction, Retinoblastoma Protein, Humans, Female, Germ-Line Mutation, Polymorphism, Single-Stranded Conformational
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