Smidt M, Kirsch I, Ratner L
Department of Medicine, Washington University, St. Louis, Missouri 63110.
J Clin Invest. 1990 Oct;86(4):1151-7. doi: 10.1172/JCI114820.
An abnormality in the c-sis protooncogene was identified in leukocyte DNA from members of a family predisposed to the development of meningioma, and was found to be associated with the development of the tumor in those individuals. Molecular analysis of this abnormality demonstrated a deletion within the fifth intron of the c-sis gene. The normal c-sis gene has an Alu sequence in this region which includes two perfect 130 nucleotide repeated sequences separated by 5 bp. The deleted c-sis allele is missing precisely one copy of the 130 bp repeat and the intervening 5 bp. An identical deletion was also found in DNA from 1 of 13 sporadic meningiomas.
在一个易患脑膜瘤的家族成员的白细胞DNA中发现了c-sis原癌基因的异常,并且发现该异常与这些个体中肿瘤的发生有关。对这种异常的分子分析表明c-sis基因第五内含子内存在缺失。正常的c-sis基因在该区域有一个Alu序列,其中包括两个由5个碱基对隔开的完美的130个核苷酸重复序列。缺失的c-sis等位基因恰好缺失了一个130 bp重复序列和中间的5个碱基对。在13个散发性脑膜瘤中的1个的DNA中也发现了相同的缺失。