Farulla A, Monaco E, Corrao C R, Cardoni F, Simonazzi S, Dallapiccola B
Cattedra di Medicina del Lavoro Università degli Studi di Roma, La Sapienza, Titolare.
G Ital Med Lav. 1986 May-Jul;8(3-4):133-8.
Fanconi's anaemia (FA) is an autosomal recessive mutation associated with constitutional chromosome aberrations. Patient's cells show increased susceptibility to different mutagens, especially bifunctional alkylating agents. Asymptomatic heterozygotes have a population prevalence of 1 in 300, and have been considered at risk for cancers. It has also been shown that their cells are especially sensitive to some chemicals in vitro. Laboratory tests are presented and discussed which are adequate for FA heterozygotes identification and for understandings the basic defect of this mutation.
范科尼贫血（FA）是一种与先天性染色体畸变相关的常染色体隐性突变。患者细胞对不同诱变剂的敏感性增加，尤其是双功能烷化剂。无症状杂合子在人群中的患病率为1/300，被认为有患癌症的风险。研究还表明，他们的细胞在体外对某些化学物质特别敏感。本文介绍并讨论了适用于识别FA杂合子以及了解该突变基本缺陷的实验室检测方法。
