Retroviral gene transfer for the assignment of Fanconi anemia (FA) patients to a FA complementation group
| Autor: | J M Liu, K L Fu, P C Thuss, Martin Digweed, T Fujino, C E Walsh |
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| Rok vydání: | 1998 |
| Předmět: |
Male
Fanconi anemia complementation group C Sequence analysis Cell Cycle Proteins Biology Lymphocyte Activation Polymerase Chain Reaction Cell Line Gene mapping Fanconi anemia Transduction Genetic Genetics medicine Humans Lymphocytes Allele Child Gene Genetics (clinical) Cell Line Transformed Genetic transfer Cell Cycle Genetic Complementation Test Gene Transfer Techniques Nuclear Proteins Proteins Chromosome Breakage Fibroblasts medicine.disease Molecular biology Fanconi Anemia Complementation Group Proteins Complementation DNA-Binding Proteins Fanconi Anemia Phenotype Child Preschool Female Moloney murine leukemia virus |
| Zdroj: | Human genetics. 102(2) |
| ISSN: | 0340-6717 |
| Popis: | Fanconi anemia (FA) is an autosomal recessive disorder characterized by bone marrow failure, cancer susceptibility, and a variety of developmental defects. The disease is clinically heterogeneous; eight different complementation groups (FA A-H) and, thus, genetic loci have been discovered. Two genes, FAA and FAC, have been cloned. Disease-associated mutations have been detected and rapid mutation screening makes possible the assignment of patients without resorting to time-consuming cell fusion and complementation analysis. Amplification of specific cDNAs from RNA followed by direct or indirect sequence analysis is a standard method for mutation detection. During the course of such examinations of the FAC gene, we have noted that frequently only one of the expressed alleles is successfully amplified. This can lead to false assignment of patients to a complementation group. As we report here, such cases can be rapidly clarified by retroviral gene transfer and complementation analysis. |
| Databáze: | OpenAIRE |
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