MOLECULAR CHARACTERIZATION OF FANCONI-ANEMIA GROUP-C (FAC) GENE POLYMORPHISMS

Fanconi anaemia (FA) is a genetically heterogeneous disease with defec ts in at least five genes. The gene for complementation group C (FAG) has been cloned and mapped to chromosome 9q22.3 in the interval betwee n D9S280 and D9S287. Linkage analysis is a rapid tool for the exclusio n of FA families from complementation group C. The currently available markers are informative microsatellites flanking FAC and an intrageni c restriction fragment length polymorphism (RFLP). In this paper, the identification of three CA polymorphic repeats localized in introns -1 a, 2 and 3 and one rare variant in exon 2 are reported. The new micros atellites will enable more accurate analysis not only of FA but also i n families affected by multiple self-healing squamous epitheliomata (E SS1) and nevoid basal cell carcinoma (NBCCS), since the genes of both syndromes have been mapped in the same interval as FAC. (C) 1996 Acade mic Press Limited