Isolation and characterization of the human mismatch repair gene hMSH2 promoter region
Autor: | Steven Dooley, Cornelius Welter, Thomas Seib, Gerhard Seitz, Stefan J. Scherer |
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Rok vydání: | 1996 |
Předmět: |
congenital
hereditary and neonatal diseases and abnormalities DNA Repair Placenta Molecular Sequence Data Biology Polymerase Chain Reaction law.invention Fungal Proteins Exon Pregnancy law Genetics Humans Genomic library Promoter Regions Genetic Gene Genetics (clinical) Polymerase chain reaction DNA Primers Genomic Library Base Sequence Nucleic acid sequence nutritional and metabolic diseases Promoter Exons Colorectal Neoplasms Hereditary Nonpolyposis digestive system diseases DNA-Binding Proteins MutS Homolog 2 Protein Hereditary Diseases Female DNA mismatch repair |
Zdroj: | Human Genetics. 97 |
ISSN: | 1432-1203 0340-6717 |
DOI: | 10.1007/bf00218844 |
Popis: | Hereditary nonpolyposis colorectal cancer (HN-PCC) is one of man's commonest hereditary diseases. Several studies have identified four responsible genes that are involved in a process known as DNA mismatch repair; hMSH2 is the most important of these four genes. In addition to mutational analysis of these genes, investigations of transcriptional regulatory mechanisms are important. Therefore, our purpose has been to isolate the hMSH2 promoter region. Using direct sequencing of P1 recombinant DNA we have characterized 1100 bp of the hMSH2 promoter. |
Databáze: | OpenAIRE |
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