共查询到20条相似文献,搜索用时 62 毫秒
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Different familial adenomatous polyposis phenotypes resulting from deletions of the entire APC exon 15 总被引:4,自引:0,他引:4
Germline mutations of the adenomatous polyposis coli ( APC) gene cause familial adenomatous polyposis (FAP), an autosomal, dominantly inherited disease that predisposes patients to colorectal cancer. The APC gene is composed of 15 coding exons and encodes an open reading frame of 8.5 kb. The 3' 6.5 kb of the APCopen reading frame is encoded by a single exon, exon 15. Most identified APC mutations are at the 5' half of the APC open reading frame and are nucleotide substitutions and small deletions or insertions that result in truncation of the APC protein. Very few well-characterized gross alterations of APC have been reported. Patients with FAP typically develop hundreds to thousands of colorectal tumors beginning in their adolescence. A subgroup of patients with FAP who develop fewer tumors at an older age have what is called attenuated FAP (AFAP). Accumulating evidence indicates that patients carrying germline APC mutations in the first four coding exons, in the alternatively spliced region of exon 9, or in the 3' half of the coding region usually develop AFAP. We characterized two germline APC alterations that deleted the entire APC exon 15 as the result of 56-kb and 73-kb deletions at the APC locus. A surprising finding was that one proband had the typical FAP phenotype, whereas the other had a phenotype consistent with that of AFAP. 相似文献
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Coding sequence and expression of the homeobox gene Hox 1.3 总被引:15,自引:0,他引:15
M Fibi B Zink M Kessel A M Colberg-Poley S Labeit H Lehrach P Gruss 《Development (Cambridge, England)》1988,102(2):349-359
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A 5 kb region of the 95 kb mitochondrial genome of Podospora anserina race s has been mapped and sequenced (1 kb = 10(3) base-pairs). This DNA region is continuous with the sequence for the ND4L and ND5 gene complex in the accompanying paper. We show that this sequence contains the gene for cytochrome oxidase subunit II (COII). This gene is 4 kb in length and is interrupted by a subgroup IB intron (1267 base-pairs (bp) in length) and a subgroup IA intron (1992 bp in length). This group IA intron has a long open reading frame (ORF; 472 amino acid residues) discontinuous with the upstream exon sequence. A putative alternative splice site is present, which brings the ORF into phase with the 5' exon sequence. The 5'- and 3'-flanking regions of the COII gene contain G + C-rich palindromic sequences that resemble similar sequences flanking many Neurospora crassa mitochondrial genes. 相似文献
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N Nomura S Sasamoto S Ishii T Date M Matsui R Ishizaki 《Nucleic acids research》1989,17(14):5489-5500
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Dinchuk JE Henderson NL Burn TC Huber R Ho SP Link J O'Neil KT Focht RJ Scully MS Hollis JM Hollis GF Friedman PA 《The Journal of biological chemistry》2000,275(50):39543-39554