双眼视网膜母细胞瘤Rb基因缺失研究

Study of Rb Gene Deletions in Bilateral Retinoblastomas

利用Ｒｂ（Ｒｅｔｉｎｏｂｌａｓｔｏｍａ）基因ＣＤＮＡ探针，采用ＳｏｕｔｈｅｒｎＢｌｏｔ方法，检测５例双眼视网膜母细胞瘤患者及家系中相关人员共１９例外周血白细胞ＤＮＡ。２例患者体细胞出现Ｒｂ基因半合缺失，其中１例Ｒｂ基因半合缺失来自亲代生殖细胞，另１例Ｒｂ基因半合缺失可能发生于配子形成期。这一结果为以分子水平为基因的“二次突变论”提供了依据，并表明此方法在临床上有推广应用价值。文中还讨论了第二恶性肿瘤问题。

sing the method of southern blot analysis,we examined 1 9 cases peripheral leukocyte. Five bilateralretinoblastoma patients and their relatives with cDNA showed to be the Rb gene as the probe,The resultsshowed that the Rb gene of two of five retinoblastoma patients had heizyous internal deletion. One patientwas inherited via the germinal cells,the other was derived from zygote formation stage. The results supply anevidence to Knudson’s two hits hypothesis about the development of retinoblastoma at the molecular level.We believe that this method is valuable to be put into practice in the clinical field.