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猫的梭形细胞肉瘤、多形性肉瘤和纤维肉瘤病例中的新型p53肿瘤抑制基因突变。

Novel p53 tumour suppressor mutations in cases of spindle cell sarcoma, pleomorphic sarcoma and fibrosarcoma in cats.

作者信息

Mayr B, Reifinger M, Alton K, Schaffner G

机构信息

Institute for Animal Breeding and Genetics, Veterinary University, Vienna, Austria.

出版信息

Vet Res Commun. 1998 Jun;22(4):249-55. doi: 10.1023/a:1006091215330.

Abstract

Twenty feline neoplasms were sequenced in the region from exons 5 to 8 for the presence of tumour suppressor gene p53 mutations. In a spindle cell sarcoma of the bladder, a missense mutation (codon 164 AAG-->GAG, lysine-->glutamic acid) in exon 5 was detected. In a pleomorphic sarcoma, a 23 bp deletion involving the splicing junction between intron 5 and exon 6 was observed. In a fibrosarcoma, a 6 bp deletion of p53 covering 2 bp of exon 7 and 4 bp of intron 7, including the splicing junction, was found. The study demonstrates three new p53 mutations in different types of sarcomas in cats.

摘要

对20例猫肿瘤进行了外显子5至8区域的测序,以检测肿瘤抑制基因p53的突变情况。在一例膀胱梭形细胞肉瘤中,检测到外显子5中的一个错义突变(密码子164 AAG→GAG,赖氨酸→谷氨酸)。在一例多形性肉瘤中,观察到一个23 bp的缺失,涉及内含子5和外显子6之间的剪接位点。在一例纤维肉瘤中,发现p53有一个6 bp的缺失,覆盖外显子7的2 bp和内含子7的4 bp,包括剪接位点。该研究在猫的不同类型肉瘤中发现了三种新的p53突变。

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