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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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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.[1]

References

  1. A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3. Chan, V., Fong, G.C., Luk, K.D., Yip, B., Lee, M.K., Wong, M.S., Lu, D.D., Chan, T.K. Am. J. Hum. Genet. (2002) [Pubmed]
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