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一对双生子视网膜母细胞瘤的遗传学分析
引用本文:刘金陵 曾凌华. 一对双生子视网膜母细胞瘤的遗传学分析[J]. 中华眼科杂志, 1990, 26(6): 360-363
作者姓名:刘金陵 曾凌华
摘    要:

关 键 词:眼肿瘤 Rb 卵生子 遗传性疾病

A genetic and clinical study of retinoblastoma in twins
J L Liu. A genetic and clinical study of retinoblastoma in twins[J]. Chinese Journal of Ophthalmology, 1990, 26(6): 360-363
Authors:J L Liu
Affiliation:Zhongshan Ophthalmic Center, Sun Yat-sen University of Medical Sciences, Guangzhou.
Abstract:A pair of monozygotic twins, confirmed by blood grouping (ABO, MN, Rh, P), serum typing (Hp, Gc), EsD phenotyping and HLA(A, B, Cw), both developed the "cat eye" 45 days after birth; the diagnosis of retinoblastoma (Rb) was established pathologically after enucleation. From data of 33 pairs of twins with Rb in literature of this century, the concordance rate of Rb twins and genetic index of Rb (76.56%) were calculated. In addition, the reliability of zygosity determination, the "mirror image" phenomenon, and the use of the second-mutation hypothesis of Knudson for cancer initiation were briefly discussed.
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