Kawamata N, Seriu T, Bartram C R, Koeffler H P
Division of Hematology/Oncology, Cedars-Sinai Research Institute, UCLA, School of Medicine, Los Angeles, CA 90048, USA.
Cancer Lett. 1997 Jan 1;111(1-2):71-5. doi: 10.1016/s0304-3835(96)04503-x.
Mice with hereditary intestinal polyposis have mutations of the APC gene which causes formation of multiple polyps. At least one other gene influences the susceptibility for development of polyps in mice, and the locus was named Mom1. The causative gene for the Mom1 locus has recently been cloned and was found to be identical to the secretory type II phospholipase A2 (PLA2S-II) gene. Although the mechanism of contribution of PLA2S-II to formation of polyps is unclear, abnormalities of the PLA2S-II gene contribute to cellular transformation in mice. We speculated that this gene could contribute to tumorigenesis in human neoplasms. The human homologue of this gene maps to 1p35-36.1. Chromosomal deletions involving this region are frequently observed in neuroblastomas. We analyzed 19 neuroblastomas to detect point mutations of the PLA2S-II gene by PCR-single strand conformational polymorphism (SSCP). A polymorphism was detected at codon 32; no point mutations were found in the coding region of the gene. Moreover, in cases that were heterozygous at codon 32, three samples had hemizygous deletion of the gene. Taken together, PLA2S-II is frequently hemizygously deleted, but no point mutations are observed in neuroblastomas.
患有遗传性肠道息肉病的小鼠存在APC基因突变，该突变会导致多发性息肉的形成。至少还有一个其他基因影响小鼠息肉发生的易感性，该基因座被命名为Mom1。Mom1基因座的致病基因最近已被克隆，发现它与分泌型II型磷脂酶A2（PLA2S-II）基因相同。尽管PLA2S-II对息肉形成的作用机制尚不清楚，但PLA2S-II基因的异常在小鼠中会导致细胞转化。我们推测该基因可能在人类肿瘤的发生中起作用。该基因的人类同源基因定位于1p35-36.1。在神经母细胞瘤中经常观察到涉及该区域的染色体缺失。我们通过PCR-单链构象多态性（SSCP）分析了19例神经母细胞瘤，以检测PLA2S-II基因的点突变。在第32密码子处检测到一个多态性；在该基因的编码区未发现点突变。此外，在第32密码子处为杂合子的病例中，有三个样本该基因半合子缺失。综上所述，PLA2S-II在神经母细胞瘤中经常半合子缺失，但未观察到点突变。
