Identification of rare and novel mutations in the CFTR genes of CF patients in Southern England
| Autor: | Anne Thomson, Anneke Seller, Sue Shackleton, Jeremy Hull, Ann Harris, Simon Dear |
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| Rok vydání: | 1994 |
| Předmět: |
Untranslated region
Cystic Fibrosis DNA Mutational Analysis Molecular Sequence Data Cystic Fibrosis Transmembrane Conductance Regulator Biology medicine.disease_cause Polymerase Chain Reaction Cystic fibrosis Exon Gene Frequency Genetics medicine Humans Coding region Gene Genetics (clinical) Mutation Polymorphism Genetic Base Sequence Membrane Proteins Single-strand conformation polymorphism medicine.disease Molecular biology Single-Stranded Conformational Polymorphism England Genes |
| Zdroj: | Human Mutation. 3:141-151 |
| ISSN: | 1098-1004 1059-7794 |
| DOI: | 10.1002/humu.1380030209 |
| Popis: | Cystic fibrosis patients referred to two genetics centres in southern England and not found to carry common CF-associated mutations in one or both of their CFTR genes have been subjected to an extensive mutation search. The whole of the coding region of the CFTR gene, all intron-exon boundaries and 5' and 3' untranslated regions have been examined by a combination of single stranded conformational polymorphism analysis and chemical mismatch detection; 48 chromosomes with rare mutations have been identified, including 7 novel mutations, 182delT in exon 1, G27X in exon 2, Q151X in exon 4, Q220X in exon 6a, Q525X in exon 10, 3041delG in exon 16, and 4271delC in exon 23. |
| Databáze: | OpenAIRE |
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