Academic Journal
Classification of Fanconi anemia patients by complementation analysis:Evidence for a fifth genetic subtype
| العنوان: | Classification of Fanconi anemia patients by complementation analysis:Evidence for a fifth genetic subtype |
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| المؤلفون: | Joenje, Hans, Lo Ten Foe, Jerome R., Oostra, Anneke B., Van Berkel, Carola G.M., Rooimans, Martin A., Schroeder-Kurth, Traute, Wegner, Rolf Dieter, Gille, Johan J.P., Buchwald, Manuel, Arwert, Fré |
| المصدر: | Joenje , H , Lo Ten Foe , J R , Oostra , A B , Van Berkel , C G M , Rooimans , M A , Schroeder-Kurth , T , Wegner , R D , Gille , J J P , Buchwald , M & Arwert , F 1995 , ' Classification of Fanconi anemia patients by complementation analysis : Evidence for a fifth genetic subtype ' , Blood , vol. 86 , no. 6 , pp. 2156-2160 . https://doi.org/10.1182/blood.v86.6.2156.bloodjournal8662156 |
| سنة النشر: | 1995 |
| الوصف: | Fanconi anemia (FA) is an autosomal recessive disease with diverse clinical symptoms, life-threatening progressive panmyelopathy, and cellular hypersensitivity to cross-linking agents. Currently, 4 genetic subtypes or complementation groups IFA-A through FA-D) have been distinguished among 7 unrelated FA patients. We report the use of genetically marked FA lymphoblastoid cell lines representing each of the 4 presently known complementation groups to classify 13 unrelated FA patients through cell fusion and complementation analysis. Twelve cell lines failed to complement cross-linker sensitivity in fusion hybrids with only 1 of the 4 reference cell lines and could thus be unambiguously classified as FA-A (7 patients), FA-C (4 patients), or FA-D (1 patient). One cell line complemented all 4 reference cell lines and therefore represents a new complementation group, designated FA-E. These results imply that at least 5 genes appear to be involved in a pathway that, when defective, causes bone marrow failure in FA patients. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1182/blood.v86.6.2156.bloodjournal8662156 |
| الاتاحة: | https://research.vumc.nl/en/publications/9f728ccc-aff2-4c8b-9ddf-d4b51889c332 https://doi.org/10.1182/blood.v86.6.2156.bloodjournal8662156 http://www.scopus.com/inward/record.url?scp=0029163523&partnerID=8YFLogxK |
| Rights: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.DB11E7C0 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1182/blood.v86.6.2156.bloodjournal8662156 |
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