التفاصيل البيبلوغرافية
| العنوان: |
Novel mutations and polymorphisms in the Fanconi anemia group C gene |
| المؤلفون: |
Charmaine Havenga, Neil V. Morgan, Ian C. Pearson, Atieh Hajianpour, Judith C. W. Marsh, Laura H. Goldstein, Christopher G. Mathew, M. Murer-Orlando, Nicola Foot, Farkondeh Birjandi, Sheila P. Mohan, Thomas Pearson, Elena Samochatova, Rachel A. Gibson, Irene Roberts, Inderjeet Dokal, Juan C. Llerena, Richard J. Cohn, R. David Milner, Thomy J. L. de Ravel, Sarah E. Ball, Stander Jansen, Isabel M. Marques, Pushpa Vasudevan, I Kesterton |
| المساهمون: |
Faculty of Medicine and Pharmacy, Clinical sciences, Medical Genetics |
| بيانات النشر: |
Wiley-Liss Inc., 1996. |
| سنة النشر: |
1996 |
| مصطلحات موضوعية: |
Heterozygote, Cell Cycle Proteins, Biology, Polymerase Chain Reaction, law.invention, Fanconi anemia, law, Fanconi Anemia/genetics, Genetics, medicine, Humans, Gene, Genetics (clinical), Polymerase chain reaction, Polymorphism, Single-Stranded Conformational, Polymorphism, Genetic, Fanconi Anemia Complementation Group C Protein, Homozygote, Bone marrow failure, Proteins, Nuclear Proteins, Single-strand conformation polymorphism, Heterozygote advantage, medicine.disease, Molecular biology, Fanconi Anemia Complementation Group Proteins, Complementation, DNA-Binding Proteins, Restriction site, Fanconi Anemia, Proteins/genetics, mutation |
| الوصف: |
Fanconi anemia (FA) is an autosomal recessive disorder associated with hypersensitivity to DNA cross-linking agents and bone marrow failure. At least four complementation groups have been defined, and the FA group C gene (FAC) has been cloned. We have screened 76 unrelated FA patients of diverse ethnic and geographic origins and from unknown complementation groups for mutations in the FAC gene either by chemical cleavage mismatch analysis or by single-strand conformational polymorphism (SSCP). Five mutations were detected in four patients (5.3%), including two novel mutations (W22X and L496R). Nine polymorphisms were detected, seven of which have not been described previously (663A G, L190F, IVS6 + 30C T, 1312V, V449M, Q465R, and 1974G A). Six of the nine polymorphisms occurred in patients or controls from the Tswana or Sotho chiefdoms of South Africa and were not found in 50 unrelated European controls. Restriction site assays were established for all 8 pathogenic mutations identified in the FAC gene to date and used to screen a total of 94 unrelated FA patients. This identified only one other group C patient, who was homozygous for the mutation IVS4 + 4A T. This study indicates that the proportion of FA patients from complementation group C is generally likely to be less than 10%. Guidelines for the selection of FA patients for FAC mutation screening are proposed. © 1996 Wiley-Liss, Inc. |
| اللغة: |
English |
| الوصول الحر: |
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::601451df0deb90420c7ce36a9618b13dTest
https://doi.org/10.1002Test/(sici)1098-1004(1996)8:2<140::aid-humu6>3.0.co;2-f |
| حقوق: |
RESTRICTED |
| رقم الانضمام: |
edsair.doi.dedup.....601451df0deb90420c7ce36a9618b13d |
| قاعدة البيانات: |
OpenAIRE |
