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Title   한국인 망막모세포종 환자에서 Rb1유전자의 배선 돌연변이 ( Germline Mutation of Rb1 Gene in Korean Retinoblastoma Patients )
Publicationinfo   1997 Jan; 029(02): 291-299.
Key_word   Retinoblastoma, Rbl gene, PCR-SSCP, DNA sequencing, mutation
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Abstract   Purpose: Retinoblastoma is an intraocular tumor occurring almost exclusively in young children. Gerrnline mutations in the Rb 1 gene confer hereditary predisposition to retinoblastoma, To identify germline mutations in the Rb1 gene in Korean retinoblastoma patients, we analyzed germline mutations of the Rbl gene in 4 Korean retinoblastoma patients from 3 families. Materials and Methods: All patients were bilaterally affected in early childhood. First patient and second patient were same family members(SNU-RB1-1 and -2), and in the third patient(SNU-RB2), tumor cells had metastasized to the central nervous system 2 years after treatment of retinoblastoma. Fourth patient(SNU-RB3) developed secondary osteosarcoma in the nasal cavity 15 years after treatment of retinoblastoma. We have used PCR-SSCP analysis and DNA sequencing analysis to screen germline mutations. Results: We found one missense mutation in the fourth patient(SNU-RB3). This was a pomt mutation from AAA(lysine) to GAA(glutamine) at codon 616 in exon 19 of the Rbl gene. Conclusion: We confirmed one germline mutation of the Rbl gene in one Korean patient who had a sporadic bilateral retinoblastoma and osteosarcoma. Identification of the germline mutation in Rbl gene would help to improve the presymptomatic diagnosis and clinical management of retinoblastoma patients.
저 자   구자록(Ja Rok Koo),유영석(Young Seok Yoo),박재갑(Jae Gab Park)