Joenje H, Lo ten Foe J R, Oostra A B, van Berkel C G, Rooimans M A, Schroeder-Kurth T, Wegner R D, Gille J J, Buchwald M, Arwert F
Department of Human Genetics, Free University, Amsterdam, The Netherlands.
Blood. 1995 Sep 15;86(6):2156-60.
Fanconi anemia (FA) is an autosomal recessive disease with diverse clinical symptoms, life-threatening progressive panmyelopathy, and cellular hypersensitivity to cross-linking agents. Currently, 4 genetic subtypes or complementation groups (FA-A through FA-D) have been distinguished among 7 unrelated FA patients. We report the use of genetically marked FA lymphoblastoid cell lines representing each of the 4 presently known complementation groups to classify 13 unrelated FA patients through cell fusion and complementation analysis. Twelve cell lines failed to complement cross-linker sensitivity in fusion hybrids with only 1 of the 4 reference cell lines and could thus be unambiguously classified as FA-A (7 patients), FA-C (4 patients), or FA-D (1 patient). One cell line complemented all 4 reference cell lines and therefore represents a new complementation group, designated FA-E. These results imply that at least 5 genes appear to be involved in a pathway that, when defective, causes bone marrow failure in FA patients.
范可尼贫血（FA）是一种常染色体隐性疾病，具有多种临床症状、危及生命的进行性全骨髓病以及细胞对交联剂的超敏反应。目前，在7例无亲缘关系的FA患者中已区分出4种遗传亚型或互补组（FA-A至FA-D）。我们报告了使用代表目前已知的4个互补组中每一组的基因标记的FA淋巴母细胞系，通过细胞融合和互补分析对13例无亲缘关系的FA患者进行分类。12个细胞系在与4个参考细胞系中的仅1个细胞系形成的融合杂种中未能互补交联剂敏感性，因此可明确分类为FA-A（7例患者）、FA-C（4例患者）或FA-D（1例患者）。一个细胞系与所有4个参考细胞系互补，因此代表一个新的互补组，命名为FA-E。这些结果表明，至少有5个基因似乎参与了一条通路，该通路一旦有缺陷，就会导致FA患者出现骨髓衰竭。
