A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3

Am J Hum Genet. 2002 Aug;71(2):401-6. doi: 10.1086/341607. Epub 2002 Jun 28.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 19*
  • Female
  • Genetic Linkage
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Models, Genetic
  • Pedigree
  • Scoliosis / genetics*

Associated data

  • OMIM/MIM181800