Identification of candidate regions for familial idiopathic scoliosis.

作者: Nancy H. Miller , Cristina M. Justice , Beth Marosy , Kimberly F. Doheny , Elizabeth Pugh

DOI: 10.1097/01.BRS.0000162282.46160.0A

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摘要: Study Design. A genomic screen and statistical linkage analysis of 202 families with at least two individuals idiopathic scoliosis was performed. Objectives. To identify candidate regions or the autosomal loci that may be involved in expression familial scoliosis. Summary Background Data. large sample having (202 families; 1,198 individuals) ascertained; diagnoses were based on physical examination radiographic criteria. Methods. Model-independent qualitative quantitative traits (degree lateral curvature) related to used genotyping data from 391 markers families. Subsets determined before most likely mode inheritance for each family (autosomal dominant vs. X-linked dominant). Fine mapping results corroborated primary regions. Results. Candidate chromosomes 6, 9, 16, 17 considered have strongest evidence across all subsets considered. Conclusion. Linkage analyses identified several regions, a significant step defining genetic etiology this disorder.

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