急性白血病MTS1基因缺失及点突变的研究

目的 探讨多肿瘤抑制基因（ＭＴＳ１）突变与恶性血液病间的关系，方法 应用聚合酶链反应－单链查象多态性（ＰＣＲ－ＳＳＣＰ）分别和ＤＮＡ印迹（ｓｏｕｔｈｅｒｍｂｌｏｔ）方法检测３５例急性白血病患儿ＭＴＳ１基因的改变。结果 急性淋巴细胞白血病（ＡＬ）患儿的ＭＴＳ１基因缺失（包括点突变）为２６％（８／３１），其中纯合子缺失，Ｂ－ＡＬＬ为１６％（４／２５），Ｔ－ＡＬＬ为６例中有２例，点突变则两型各占１例。结

MTS1 gene deletion and point mutation in children with acute leukemia

Objective To investigate the correlation between the mutiple tumor suppressor (MTS1) gene mutation and acute childhood leukemia (AL). Methods The MTS1 gene alteration in AL 35 cases was detected with polymerase chain reactionsingle strand conformation polymorphism (PCRSSCP) and southern blot. Results The MTS1 gene deletions including the point mutation were found in 26%(8/31) of ALL cases. Homozygous deletions were found in 16% (4/25) and (2/6) of B cell and Tcell acute lymphoblastic leukemia (BALL and TALL)cases, respectively. The point mutations were found in one case of BALL and in another case of TALL. Conclusion The MTS1 gene inactivation could be found in AL children of China.Its incidence in T ALL might exceed that in BALL, but the point mutation was rare. There was a close correlation between MTS1 gene inactivation and the development of AL and the prognosis as well.