Chaganti R S, Houldsworth J
Laboratory of Cancer Genetics, Memorial Sloan-Kettering Cancer Center, New York, NY 10021.
Ann Genet. 1991;34(3-4):206-11.
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.
范可尼贫血（FA）是一种儿童常染色体隐性疾病，其特征为先天性或儿童期再生障碍性贫血、多种发育异常、髓系白血病发病率增加、自发染色体断裂增加，以及细胞和染色体对DNA双功能交联剂和烷化剂超敏。在过去二十五年里，人们试图了解该疾病的生化基础，由此产生了许多关于细胞遗传学和生化异常的描述性研究，尤其是在用DNA双功能交联剂治疗后DNA修复能力方面的研究。诸如DNA转染等最新方法为该基因的分离和分子特征分析提供了可能。据推测，FA基因属于调控造血及其他细胞类型发育的基因家族。
