PURPOSE:To investigate the status and detailed structure of Rb gene in primary tumors and somatic cells of patients with retinoblastoma. To identify the character, origin and transmission of oncogenie point mutations. METHODS:DNA hybridization,SSCP analysis and PCR-associated direct sequencing. RESULTS:Among 108 RB patients examined 80 cases were found to have subtle alterations affecting Rb locus,including 44 cases with homozygous Rb point mutations, 20 cases with two independent heterozygous Rb point mutations, 16 cases with heterozygous mutations involved in one allele of Rb gene. Majority of bilateral RB patients and a small fraction of unilateral RB patients were detected to have a germline mutation. In addition the higher frequency of new germline mutation and parental origin of mutation were observed. CONCLUSION :Rb gene is closely associated with retinoblastoma. Two mutation events and resulting inaetivations of both Rb alleles are required for RB tumorigenesis. Based on our own data,the first event is exclusively point mutation. As for the second event,LOH accounts for two third of cases,point mutation for one third of cases. （Chin J Ocul Fundus Dis,1997,13: 12- 16）
Citation： Huang Qian,Thaddeus P. Dryia,David W. Yandell.. THE CHARACTERISTICS OF Rb GENE MUTATIONS IN 108 CASES OF RETINOBLASTOMA. Chinese Journal of Ocular Fundus Diseases, 1997, 13(1): 12-16. doi: Copy