急性淋巴细胞白血病Rb基因的分析

Analysis of Rb gene in primary acute lymphoid leukemia

应用限制性内切酶片段长度多态性分析了３２例原发急性淋巴细胞白血病Ｒｂ基因的等位基因变化，采用３２Ｐ－标记的ＲｂｃＤＮＡ３．８ｋｂ探针，结果在８例患者中发现Ｒｂ基因结构异常（２５％）．其中４例出现新的３．１ｋｂ和２．３ｋｂ片段，选用Ｒｂ基因外显子１８，１９，２１，２２，２７五对引物，对已发现Ｒｂ基因异常的６例患者进行了分析，发现１例在外显子１８和２１无扩增产物．结果提示：Ｒｂ基因异常与急性淋巴细胞白血病的疾病加剧的关系较疾病的始发关系更为密切。

The structure of the Rb gene in 32 cases of acute lymphoid leukemia (ALL) were studied by Southern blotting using 32 P labeled Rb cDNA 3.8 kb probe. The structural abnormal alterations of Rb gene in DNA from 8 cases of ALL were found, an incidence of 25%. Two novel fragment (3.1 kb, 2.3 kb) were observed in five of 8 cases. We used five pair of primers of exon 18, 19, 21, 22, 27 to amplify Rb gene from 6 cases of ALL with abnormal Rb gene. Products of exon 18 and 21 were not found in one case. The results implied that abnormalities of Rb gene might be associated the progression or initiation of ALL.