A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3.
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.
Chan
Vivian
V
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
Fong
Gardian C Y
GC
Luk
Keith D K
KD
Yip
Ben
B
Lee
Miu-Kuen
MK
Wong
Man-Sim
MS
Lu
David D S
DD
Chan
Tai-Kwong
TK
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*