小儿急性白血病MTS1基因缺失及点突变的研究

为探讨MTS1基因突变与恶性血液病的关系,应用PCR-SSCP和DNA印迹方法检测35例急性白血病(AL)患儿MTS1基因改变。结果显示:急性淋巴细胞白血病(ALL)缺失(包括点突变)为25.8％(8/31)。B-ALL纯合缺失为16％(4/25),T-ALL为33％(2/6)。点突变则两型各1例。结果证明:我国儿童ALL有MTS1基因失活的存在,T-ALL高于B-ALL,点突变仅见于少数病例。该基因失活与AL的发生发展及临床预后有密切关系。

A Study of MTS1 Gene Deletion and Mutation in Children with Acute Leukemia

To investigate the correlation between the multiple tumor suppressor(TMS1)gene mutationand malignant hematologic disorders,the MTS1 gene alterations in 35 children with acute Leukemia(AL)were detected with the methods of PCR-SSCP and southern blot. It showed that the deletions on ALL(in-cluding the point mutations)were 25. 8% (8/31); homozygous deletions in B-cell and T-cell acute lym-phoblastic Leukemia(B-ALL and T-ALL)were 16% (4/25)and 33% (2/6)respectively .The point mu-tations were found only in one B-cell and one T-cell cases .This study suggested that in our country theMTS1 gene in activation could be found in ALL children and the incidence in T-All might exceed that ofB-All, but the point mutations were found in rare cases. Therefore, there was a close correlation betweenMTS1 gene inativation and development of AL and intimate involvement in clinical prognosis.