title: A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3.
abstract: Adolescent idiopathic scoliosis (AIS) is one of the most common orthopedic disorders, affecting up to 4% of schoolchildren worldwide. We studied seven unrelated multiplex families of southern Chinese descent with AIS, consisting of 25 affected members. A genomewide scan with >400 fluorescent microsatellite markers was performed. Multipoint linkage analysis by GENEHUNTER revealed significant linkage of the abnormal phenotype to the distal short arm of chromosome 19, with both a maximum multipoint LOD score and a nonparametric LOD score of 4.93. Two-point linkage analysis by MLINK gave a LOD score of 3.63 (recombination fraction theta[m=f]=0.00) at D19S216. Further high-density mapping and informative recombinations defined the AIS critical region in the vicinity of D19S216, flanked by D19S894 and D19S1034, spanning 5.2 cM on the sex-averaged genetic map on chromosome 19p13.3.
authors.affiliation: Division of Molecular Medicine, University Department of Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong Special Administrative Region, China. vnychana@hkucc.hku.hk
authors.forename: Vivian
authors.initials: V
authors.lastname: Chan
authors.forename: Gardian C Y
authors.initials: GC
authors.lastname: Fong
authors.forename: Keith D K
authors.initials: KD
authors.lastname: Luk
authors.forename: Ben
authors.initials: B
authors.lastname: Yip
authors.forename: Miu-Kuen
authors.initials: MK
authors.lastname: Lee
authors.forename: Man-Sim
authors.initials: MS
authors.lastname: Wong
authors.forename: David D S
authors.initials: DD
authors.lastname: Lu
authors.forename: Tai-Kwong
authors.initials: TK
authors.lastname: Chan
mesh_terms: D000293:Adolescent; D002648:Child; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008957:Models, Genetic; D010375:Pedigree; D012600:Scoliosis / Q000235:genetics*