ĐỘT BIẾN GEN RB1 Ở BỆNH NHÂN UNG THƯ NGUYÊN BÀO VÕNG MẠC TẠI BỆNH VIỆN MẮT TRUNG ƯƠNG

Abstract

Background: Retinoblastoma is a malignant tumor of the retina which related to RB1 gene mutation. This cancer occurs usually in children before age five. Screening mutations on RB1 gene is meaningful for treatment, diagnosis and genetic counseling. Objectives: Screening mutations on RB1 gene from a family with affected children. Subjects and methods: Peripheral blood was collected from 4 family members (father, mother and two children). Subsequently, RB1mutation was detected by DNA sequencing and abnormal RB1 transcript was identified by RT-PCR. Results: Heterozygous mutation c.G1960>C was found in father and two children, all of them have abnormal RB1 transcript. Conclusions: This study reveals a hereditary heterozygous mutation c.G1960>C which is relevant to aberrant RB1MRNA. Our results contribute to fulfill the screening strategy as well as genetic counseling for families with retinoblastoma history.