Gibson R A, Ford D, Jansen S, Savoia A, Havenga C, Milner R D, de Ravel T J, Cohn R J, Ball S E, Roberts I
Division of Medical and Molecular Genetics, UMDS, Guy's Hospital, London, UK.
J Med Genet. 1994 Nov;31(11):868-71. doi: 10.1136/jmg.31.11.868.
Fanconi anaemia is an autosomal recessive disorder associated with increased chromosome breakage and progressive bone marrow failure. The gene for complementation group C (FACC) has been cloned and mapped to chromosome 9q22.3, but neither its genetic location nor the proportion of patients belonging to group C is known. We have used a polymorphism within the FACC gene to localise it within a 5 cM interval on chromosome 9q, bounded by D9S196/D9S197 and D9S176. The genes for Gorlin's syndrome and multiple self-healing squamous epitheliomata have also been mapped to this interval. Linkage analysis with the three highly informative microsatellite polymorphisms flanking FACC in 36 Fanconi anaemia families showed that only 8% of families were linked to this locus. This indicates that the genes for the other Fanconi anaemia complementation groups must map to one or more different chromosomal locations. The markers also allowed rapid exclusion of 56% of the families in our panel from complementation group C, thus substantially reducing the number of patients who need to be screened for FACC mutations.
范科尼贫血是一种常染色体隐性疾病，与染色体断裂增加和进行性骨髓衰竭相关。互补组C（FACC）的基因已被克隆并定位于9号染色体长臂22.3区，但该基因的遗传定位以及属于C组的患者比例均未知。我们利用FACC基因内的一种多态性，将其定位于9号染色体长臂上一个5厘摩的区间内，该区间由D9S196/D9S197和D9S176界定。戈林综合征和多发性自愈性鳞状上皮瘤的基因也已定位于此区间。对36个范科尼贫血家系中FACC侧翼的三个信息丰富的微卫星多态性进行连锁分析表明，只有8%的家系与该位点连锁。这表明其他范科尼贫血互补组的基因肯定定位于一个或多个不同的染色体位置。这些标记还能快速排除我们样本中56%的家系不属于互补组C，从而大幅减少了需要筛查FACC突变的患者数量。
