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108例视网膜母细胞瘤Rb基因突变的特征 被引量:6

THE CHARACTERISTICS OF Rb GENE MUTATIONS IN 108 CASES OF RETINOBLASTOMA.
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摘要 目的:研究RB患者肿瘤及体细胞内Rb基因的存在状态、细微结构、Rb基因突变的特征、起源与传递。方法:DNA分子杂交、SSCP分析、DNA序列测定。结果:108例RB肿瘤标本中80例(74%)存在Rb基因点突变,其中44例为纯合型,20例有二个独立发生的杂合型点突变,16例只检出一个杂合型点突变。通过对比分析RB患者肿瘤与白细胞DNA、RB患者家庭成员白细胞DNARb基因的结构,揭示了Rb基因点突变的起源与遗传特征。结论:Rb基因是与RB肿瘤形成关系最为密切的基因。RB肿瘤发生需二次突变事件导致Rb基因的二个等位基因失活,第一次突变事件突出表现为点突变;第二次突变事件主要是LOH。 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 oncogenic 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 inactivations 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.
出处 《中华眼底病杂志》 CAS CSCD 北大核心 1997年第1期12-16,共5页 Chinese Journal of Ocular Fundus Diseases
关键词 视网膜母细胞瘤 RB基因 点突变 聚合酶链反应 Retinoblastoma/genetics Genes,Retinoblastoma Point mutation Polgmerase chain reaction Sequence analysis,DNA
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  • 1黄倩.RB患者肿瘤及体细胞中Rb基因点突变谱及其特征和意义[J]中华眼底病杂志,1995(04).
  • 2F. Vogel. Genetics of retinoblastoma[J] 1979,Human Genetics(1):1~54
  • 3F. Vogel,E. Schalt,J. Krüger,P. Propping,K. F. Lehnert. The electroencephalogram (EEG) as a research tool in human behavior genetics: Psychological examinations in healthy males with various inherited EEG variants[J] 1979,Human Genetics(1):1~45

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