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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.

SUBMITTER: Chan V

PROVIDER: S-EPMC379172 | biostudies-literature | 2002 Aug

REPOSITORIES: biostudies-literature

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

Chan Vivian V 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

American journal of human genetics 20020628 2

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 ...[more]

PMID: 12094330

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