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Association of chromosome 2q36.1-36.3 and autosomal dominant transmission in ankylosing spondylitis: Results of genetic studies across generations of Han Chinese families
Journal of Medical Genetics, 05/08/09

Gu J et al. - Study proposes one of the new genetic models of autosomal dominant transmission in ankylosing spondylitis (AS). Identification of linkage to chromosome 2q36.1-2q36.3 and the HLA-B region highlights the future potential of more comprehensive genetic studies of determinants of disease risk.

• Study to identify genetic mechanism and mode of transmission of AS
• A genome wide scan on 75 individuals across multiple generations of 3 Han Chinese families affected with AS was conducted
• Pairwise LOD scores were calculated using LINKAGE package for the obtained genotypes
• High-resolution mapping was then performed based on markers with significant LOD scores
• To minimize the number of crossovers in each family, haplotype were constructed and assigned

• Segregation analysis and pedigree investigation suggested an autosomal dominant inheritance
• Two of the pedigrees shared one candidate region for AS on 2q36.1-2q36.3 spanning 6-cM
• While the other showed strong linkage to the HLA-B region

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