Nimmrich I, Friedl W, Kruse R, Pietsch S, Hentsch S, Deuter R, Winde G, Müller O
Max-Planck-Institut für molekulare Physiologie, Dortmund, Germany.
Hum Genet. 1997 Sep;100(3-4):345-9. doi: 10.1007/s004390050514.
The Min (multiple intestinal neoplasia) mouse with a germline mutation in the adenomatous polyposis coli gene serves as an animal model for familial adenomatous polyposis coli (FAP). The number and age at onset of colorectal adenomas varies in the offspring of Min mice crossed with other strains. The murine gene for the secretory phospholipase A2 (PLA2G2A) was found to be the main candidate for these variations. To test the hypothesis of a correlation between PLA2G2A gene alterations and human tumor development, we screened 14 patients with FAP and 20 patients with sporadic colorectal cancer for germline and somatic PLA2G2A gene mutations. None of the individuals with FAP showed PLA2G2A germline alterations. However, a germline mutation was observed in one patient with an apparently sporadic colorectal tumor; the wildtype allele was somatically lost in the tumor of this patient.
腺瘤性息肉病 coli 基因发生种系突变的 Min（多发性肠道肿瘤）小鼠可作为家族性腺瘤性息肉病 coli（FAP）的动物模型。与其他品系杂交的 Min 小鼠后代中，结直肠腺瘤的数量和发病年龄各不相同。已发现分泌型磷脂酶 A2（PLA2G2A）的小鼠基因是这些差异的主要候选基因。为了检验 PLA2G2A 基因改变与人类肿瘤发生之间存在相关性的假设，我们对 14 例 FAP 患者和 20 例散发性结直肠癌患者进行了种系和体细胞 PLA2G2A 基因突变筛查。所有 FAP 患者均未出现 PLA2G2A 种系改变。然而，在 1 例明显为散发性结直肠肿瘤的患者中观察到种系突变；该患者肿瘤中的野生型等位基因发生了体细胞性丢失。
