10例遗传型视网膜母细胞瘤肿瘤组织Rb基因突变分析被引量：1

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摘要１０例遗传型视网膜母细胞瘤肿瘤组织Ｒｂ基因突变分析张清炯箕田健生曾瑞萍吴中耀遗传性视网膜母细胞瘤（ｒｅｔｎｏｂｌａｓｔｏｍａ，ＲＢ）是由Ｒｂ基因两次突变而失活所致，第一次突变为生殖细胞性突变，第二次突变为体细胞性突变。生殖细胞性突变决定携带者患ＲＢ的...

作者张清炯箕田健生曾瑞萍吴中耀

机构地区中山医科大学中山眼科中心帝京大学市原病院眼科

出处《中华眼底病杂志》 CAS CSCD 北大核心 1997年第1期17-17,共1页 Chinese Journal of Ocular Fundus Diseases

基金广东省自然科学基金三岛济一眼科研究与国际交流基金川医学医疗研究财团等基金

关键词视网膜母细胞瘤 RB RB基因基因突变

同被引文献19

1张清炯,箕田健生,曾瑞萍.简便基因诊断在视网膜母细胞瘤风险预测的临床应用[J].中国实用眼科杂志,1997,15(5):272-274. 被引量：2
2Vogt F. Genetics of retinoblastoma. Hum Genet, 1979,52 : 1-54.
3Murphree AL. Molecular genetics of retinoblastoma. Ophthalmol Clin North Am, 1995,8 : 155-166.
4Valverde JR, Alonse J, Palacios I, et al. RBI gene mutation update, a meta-analysis based on 932 reported mutations available in a searchable database. BMC Genetics, 2005,6:53.
5Moll AC, Imhof SM, Schouten-Van MA, et al. Second primary tumors in hereditary retinoblastoma : a register-based study, 1945-1997. Ophthalmology,2001,108 : 1109-1114.
6Fletcher O, Easton D, Anderson K, et al. Lifetime risks of common cancers among retinoblastoma survivors. J Natl Cancer Inst,2004, 96 : 357-363.
7Spencer C, Pajovic S, Devlin H, et al. Distinct patterns of expression of the RB gene family in mouse and human retina. Gene Expr Patterns ,2005,5:687-694.
8Dannenberg JH, Schuijff L, Dekker M, et al. Tissue-specific tumor suppressor activity of retinoblastoma gene homologs p107and p130. Genes & Development ,2004,18:2952-2962.
9Xiao W, Oefner PJ. Denaturing high-performance liquid chromatography : a review. Hum Mutat ,2001,17:439-474.
10Bahrami AR, Dickman MJ, Matin MM, et al. Use of fluorescent DNA-interealating dyes in the analysis of DNA via ion-pair reversed-phase denaturing high-performance liquid chromatography. Anal Biochem ,2002,309:248-252.

中华眼底病杂志

1997年第1期

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