title: Retroviral gene transfer for the assignment of Fanconi anemia (FA) patients to a FA complementation group.
abstract: 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.
authors.affiliation: Gene Therapy Center, Department of Medicine, University of North Carolina at Chapel Hill, 27599, USA.
authors.forename: K L
authors.initials: KL
authors.lastname: Fu
authors.forename: P C
authors.initials: PC
authors.lastname: Thuss
authors.forename: T
authors.initials: T
authors.lastname: Fujino
authors.forename: M
authors.initials: M
authors.lastname: Digweed
authors.forename: J M
authors.initials: JM
authors.lastname: Liu
authors.forename: C E
authors.initials: CE
authors.lastname: Walsh
mesh_terms: D002453:Cell Cycle / Q000235:genetics; D018797:Cell Cycle Proteins; D002460:Cell Line; D002461:Cell Line, Transformed; D002648:Child; D002675:Child, Preschool; D019457:Chromosome Breakage / Q000235:genetics; D004268:DNA-Binding Proteins; D005199:Fanconi Anemia / Q000235:genetics*; D051856:Fanconi Anemia Complementation Group Proteins; D005260:Female; D005347:Fibroblasts; D018014:Gene Transfer Techniques; D005816:Genetic Complementation Test; D006801:Humans; D008213:Lymphocyte Activation; D008214:Lymphocytes / Q000378:metabolism; D008297:Male; D008979:Moloney murine leukemia virus / Q000235:genetics*; D009687:Nuclear Proteins; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics; D014161:Transduction, Genetic
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D051856:Fanconi Anemia Complementation Group Proteins; D009687:Nuclear Proteins; D011506:Proteins