British journal of haematology, 1999-09, Vol.106 (3), p.706-708
1999
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Details
- Autor(en) / Beteiligte
- Titel
- Mutational analysis of the DNA mismatch repair gene hMLH1 in myeloid leukaemias
- Ist Teil von
- British journal of haematology, 1999-09, Vol.106 (3), p.706-708
- Ort / Verlag
- Oxford, U.K. and Cambridge, USA: Blackwell Science Ltd
- Erscheinungsjahr
- 1999
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- Mutations of the DNA mismatch repair (MMR) gene hMLH1 have recently been linked to the development of some hereditary and sporadic cancers which frequently display widespread microsatellite instability (MSI). Conflicting results regarding the extent of MSI in myeloid leukaemias prompted us to perform mutational analysis of all 19 exons of the hMLH1 gene by polymerase chain reaction–single‐stranded conformation polymorphism (PCR‐SSCP) and sequence analysis in a total of 133 patients with acute and chronic myeloid leukaemia. Apart from one exonic and one intronic polymorphism, no mutations were detected in any of the samples indicating that the major MMR gene hMLH1 is not involved in the pathogenesis or progression of myeloid malignancies.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0007-1048eISSN: 1365-2141DOI: 10.1046/j.1365-2141.1999.01595.xTitel-ID: cdi_proquest_miscellaneous_70008957
- Format
- –
- Schlagworte
- Acute Disease, acute myeloid leukaemia, Adaptor Proteins, Signal Transducing, Base Pair Mismatch, Biological and medical sciences, Carrier Proteins, Chronic Disease, chronic myeloid leukaemia, DNA mismatch repair, DNA Repair, Hematologic and hematopoietic diseases, Hematology, hMLH1, Humans, Leukemia, Myeloid - genetics, Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis, Medical sciences, microsatellite instability, Microsatellite Repeats, Mutation - genetics, MutL Protein Homolog 1, Neoplasm Proteins - genetics, Nuclear Proteins, Polymerase Chain Reaction - methods