Blanquet V, Créau-Goldberg N, de Grouchy J, Turleau C
U. 173 INSERM-Cytogénétique Humaine et Comparée, Paris, France.
Am J Med Genet. 1991 Jun 1;39(3):355-61. doi: 10.1002/ajmg.1320390321.
The recent cloning of the retinoblastoma (RB) gene as well as the identification of intragenic polymorphisms afford the necessary tools for the analysis of rearrangements using molecular hybridization. We searched for constitutional deletions by Southern blotting in 67 independent patients with normal karyotype comprising 15 familial and 52 sporadic cases. Among the latter, 33 were bilaterally and 19 unilaterally affected. We detected 6 deletions using cDNA probes covering almost all of the RB gene, as well as a genomic probe of the 5' part of the gene. With this approach, the incidence of detectable deletions was around 10%. No hot spots for deletion breakpoints were found. Asymptomatic carriers were detected in 2 families. The effectiveness of genetic counselling was largely improved by this approach.
视网膜母细胞瘤（RB）基因的近期克隆以及基因内多态性的鉴定，为使用分子杂交分析重排提供了必要工具。我们通过Southern印迹法在67例核型正常的独立患者中寻找结构性缺失，这些患者包括15例家族性和52例散发性病例。在后者中，33例为双侧受累，19例为单侧受累。我们使用覆盖几乎整个RB基因的cDNA探针以及该基因5'部分的基因组探针检测到6处缺失。通过这种方法，可检测到的缺失发生率约为10%。未发现缺失断点的热点区域。在2个家族中检测到无症状携带者。这种方法大大提高了遗传咨询的有效性。
