Yamaguchi Hiroki, Inokuchi Koiti, Tarusawa Miki, Dan Kazuo
Division of Hematology, Department of Internal Medicine, Nippon Medical School, Tokyo, Japan.
Am J Hematol. 2002 Jan;69(1):74-6. doi: 10.1002/ajh.10030.
The bcl-x gene product has two forms, bcl-xl and bcl-xs. The bcl-xl form, similar to bcl-2, inhibits apoptosis. Reverse transcriptase-polymerase chain reaction/single-stranded conformation polymorphism (RT-PCR-SSCP) gel analysis was used to screen for mutations of the bcl-xl transcript of 50 non-Hodgkin's lymphoma (NHL) cases. One missense mutation in a patient with diffuse large B-cell lymphoma was found. Sequence analysis of this case showed that AGC (Ser) was mutated to GGC (Gly) in codon 154. An examination of mutation and/or polymorphism in born marrow samples of this case and 50 normal controls by the RT-PCR-SSCP method could not detect bandshifts. Mutation of the bcl-x gene in NHL has not been reported previously. There is a possibility that mutation of the bcl-x gene play a role in the tumorigenesis of NHL.
bcl-x基因产物有两种形式，即bcl-xl和bcl-xs。bcl-xl形式与bcl-2相似，可抑制细胞凋亡。采用逆转录聚合酶链反应/单链构象多态性（RT-PCR-SSCP）凝胶分析对50例非霍奇金淋巴瘤（NHL）病例的bcl-xl转录本进行突变筛查。在1例弥漫性大B细胞淋巴瘤患者中发现1个错义突变。该病例的序列分析显示，第154密码子处的AGC（Ser）突变为GGC（Gly）。采用RT-PCR-SSCP方法检测该病例及50例正常对照骨髓样本中的突变和/或多态性，未检测到条带移位。此前尚未报道NHL中bcl-x基因的突变。bcl-x基因的突变有可能在NHL的肿瘤发生中起作用。
