单眼散发性视网膜母细胞瘤Rb基因缺失的研究

A Study of the Rb Gene Deletions in Unilateral and Sporadic Retinoblastomas

对12例单眼散发性视网膜母细胞瘤患者进行了Rb基因存在状态的检测,其中3例Rb基因剂量低于正常对照、2例有异常大小DNA片段出现、2例DNA片段部分缺失,并且1例体细胞Rb基因有扩增改变,这种改变为首次报导。

Using the method of Southern blot analysis, we examined twelve retinoblastomas with a complementary DNA showed to be the Rb gene as the probe. For each sample examined, the same dosage was taken and the normal fetal DNA of eyes was used as the normal control. The results showed that the Rb gene of two of 12 retinoblastomas had homozygous, internal deletions and hemizygous internal deletions in other three cases. The decreased Hind Ⅲ fragments were found in the rest of 2 cases. Comparing with the normal control, we also found a change of proliferation involved the 6.2 kb Hind Ⅲ restriction fragments for a patient in his somatic cells (periphreral lymphocyte). It is possible that the proliferation of the Rb gene plays an important role for the tumorigenesis of retinoblastomas. Our data are able to confirm that the Rb genedeletions are responsible to tumorigenesis of retinoblastoma.