GENETIC LINKAGE STUDY OF ADOLESCENT IDIOPATHIC SCOLIOSIS (AIS) IN THE BRITISH POPULATION

Introduction: Adolescent idiopathic scoliosis (AIS) is described as a sex-influenced autosomal dominantly inherited disorder with females more often affected than males, and operative ratioof 7F:1M (Child et al. 1999). Two AIS loci have been reported on chromosome 17p11 (Salehi et al. 2002) and chromosome 19p13.3 (Chan et al. 2002) in the Italian and Chinese populations, respectively. Three other susceptibility AIS loci on chromosome 6q, distal 10q and 18q (Wise et al. 2000), and more recently primary candidate regions on chromosomes 6, 9, 16, and 17 (Miller et al, 2005) have also been reported.Purpose: o perform a genome scan for suitable UK multiplex families and identify new genetic loci for AIS.Method: NA samples from 208 subjects (134 affected, 17 reduced penetrance members and 79 normal) from 25 multi-generation British families with confirmed diagnosis of AIS were selected from our AIS family database, and genotyped for 410 polymorphic markers from the entire genome, spaced at 10 cM intervals. Gen...