한국인 망막모세포종 환자에서 Rbl유전자의 배선 돌연변이
Germline Mutation of Rb1 Gene in Korean Retinoblastoma Patients
대한암학회지 1997년 29권 2호 p.291 ~ 298
구자록, 박재갑, 유영석,
소속 상세정보
구자록 ( )
서울대학교 암연구소
박재갑 ( )
서울대학교 암연구소
유영석 ( )
서울대학교 암연구소
KMID : 0360319970290020291
Abstract
Purpose:
@EN Retinoblastoma is an intraocular tumor occurring almost exclusively in young children. Germline in the Rb1 gene confer hereditary predisposition to retinoblastoma. To identify germline mutations in the Rb1 gene in Korean retinoblastoma
patients, we
analyzed germline mutations of the Rb1 gene in 4 Korean retinoblastoma patients from 3 families.
@ES Materials and Methods;
@EN 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 patients(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.
@ES Results:
@EN We found one missense mutation in the fourth patient(SNU-RB3). This was a point mutation from AAA(lysine) to GAA(glutamine) at codon 616 in exon 19 of the Rb1 gene.
@ES Conclusion:
@EN We confirmed one germline mutation of the Rb1 gene in one Korean patient who had a sporadic bilateral retinoblastoma and osteosarcoma. Identification of the germline mutation in Rb1 gene would help to improve the presymptomatic diagnosis and
clinical management of retinoblastoma patients.
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