Fanconi anemia: A pleotropic mutation with multiple cellular and developmental abnormalities Journal Article
| Authors: | Chaganti, R. S. K.; Houldsworth, J. |
| Article Title: | Fanconi anemia: A pleotropic mutation with multiple cellular and developmental abnormalities |
| Abstract: | Fanconi anemia (FA), an autosomal recessive disorder of children, is characterized by congenital or childhood aplastic anemia, multiple developmental anomalies, increased incidence of myeloid leukemia, increased spontaneous chromosome breakage, and cellular and chromosomal hypersensitivity to DNA bifunctional crosslinking and alkylating agents. Attempts to understand the biochemical basis of the disorder over the past two and a half decades have resulted in a number of descriptive studies pertaining to cytogenetic and biochemical abnormalities, especially of DNA repair proficiency following treatment with DNA bifunctional crosslinking agents. More recent approaches such as DNA transfection offer the potential for isolation and molecular characterization of the gene. The FA gene is postulated to belong to the family of genes that regulate the development of hematopoietic and other cell types. |
| Keywords: | mutation; review; neoplasms; dna repair; dna; abnormalities, multiple; hematopoietic cell; chromosome breakage; chromosome aberrations; pleiotropy; fanconi anemia; cross-linking reagents; anemia, aplastic; chromosome disorders; genes, recessive; dna transfection; human; priority journal; article; childhood aplastic anemia; childhood myeloid leukemia; chromosome breakage syndrome; dna bifunctional crosslinking agent hypersensitivity; dna repair disorder; genetic control of hematopoietic cell development; recessive disorder |
| Journal Title: | Annales de Genetique |
| Volume: | 34 |
| Issue: | 3-4 |
| ISSN: | 0003-3995 |
| Publisher: | Elsevier Inc. |
| Date Published: | 1991-01-01 |
| Start Page: | 206 |
| End Page: | 211 |
| Language: | English |
| PUBMED: | 1809228 |
| PROVIDER: | scopus |
| DOI/URL: | |
| Notes: | Article -- Export Date: 27 September 2019 -- Source: Scopus |
