A variation in the structure of the protein-coding region of the human p53 gene
作者： V.L. Buchman , P.M. Chumakov , N.N. Ninkina , O.P. Samarina , G.P. Georgiev
DOI: 10.1016/0378-1119(88)90196-5
关键词: Nucleic acid sequence 、 Allele 、 genomic DNA 、 Gene 、 Enhancer 、 Molecular biology 、 Biology 、 Intron 、 Genetics 、 Molecular cloning 、 Exon
摘要: Abstract An extensive analysis of genomic DNA preparations from a number normal and malignant tissues revealed Bgl II site polymorphism the human p53 gene. Approximately 10% gene alleles were found to contain an additional localized in region intron I. This allelic form was also responsible for protein having altered electrophoretic mobility. Molecular cloning sequencing both base-pair change codon 72 causing arginine → proline substitution allele with site. Both variants may occur homozygous state are therefore functional.
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