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 micr...

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Bibliographic Details
Published in:American journal of human genetics 2002-08, Vol.71 (2), p.401-406
Main Authors: Chan, Vivian, Fong, Gardian C.Y., Luk, Keith D.K., Yip, Ben, Lee, Miu-Kuen, Wong, Man-Sim, Lu, David D.S., Chan, Tai-Kwong
Format: Article
Language:English
Subjects:
Adolescent
Biological and medical sciences
Child
Chromosome Mapping
Chromosomes, Human, Pair 19
Diseases of the osteoarticular system
Diseases of the spine
Female
Genetic Linkage
Humans
Lod Score
Male
Medical sciences
Microsatellite Repeats
Models, Genetic
Pedigree
Scoliosis - genetics
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Summary: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 θ [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.
ISSN:0002-9297
1537-6605
DOI:10.1086/341607