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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。
To investigate the relationship between MTS1 gene mutation and hematologic malignancies, MTS1 gene mutation in 35 children with acute leukemia (AL) was detected by PCR-SSCP and Southern blotting. The results showed that: acute lymphoblastic leukemia (ALL) deletion (including point mutations) was 25.8% (8/31). B-ALL homozygous deletion was 16% (4/25) and T-ALL was 33% (2/6). Point mutations are two types of 1 case. The results show that: our children ALL MTS1 gene inactivation of the existence of T-ALL higher than B-ALL, point mutations found only in a few cases. Inactivation of the gene is closely related to the occurrence and development of AL and clinical prognosis.