Genome-wide SNP-based linkage analysis for ADNSHL families identifies novel susceptibility loci with positive evidence for linkage

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概要

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• The linkage search for susceptibility loci using SNP markers in hereditary hearing loss has proven challenging due to genetic heterogeneity. We conducted a genome-wide linkage analysis using high-density SNP markers in two Korean families (families coded SD-J and SR-167) with autosomal dominant non-syndromic hearing loss (ADNSHL). Evidence was found of linkage at 8q24.13~q24.3 and 10p11.21~q22.2 (LOD 3.01) in the SD-J family. In the case of family SR-167, which had the most affected members, the parametric LOD score was low owing to the lack of power for linkage analysis. However, using non-parametric linkage analysis, it was possible to obtain significant evidence for linkage at 10q22.1~q23.31 (LOD 1.79; NPL 6.47, P < 0.00001). There is an overlapping region with a significant LOD score between the SD-J and SR-167 families, which encompasses 4 cM at 10q22.1~22.2. Interestingly, the characteristics of hearing loss in both families were similar, and the haplotype within overlapping region was shared in the affected individuals of the two families. We performed direct sequencing of the candidate genes that are thought to be causing the condition, but no disease-causing mutations were identified.

• 日本遺伝学会の論文
• 2011-04-25

著者

• Koo Soo

  Division Of Genetic Disease Department Of Biomedical Science National Institute Of Health

• Park Hyun-young

  Division Of Cardiovascular And Rare Diseases Center For Biomedical Sciences National Institute Of He

• Park Mi-Hyun

  Division of Cardiovascular and Rare Diseases, Center for Biomedical Sciences, National Institute of

• Park Hong-Joon

  Soree Ear Clinic

• Kim Kwang-Joong

  Division of Structural and Functional Genomics, Center for Genome Science, National Institute of Hea

• Woo Hae-Mi

  Division of Cardiovascular and Rare Diseases, Center for Biomedical Sciences, National Institute of

• Lee Jong-Young

  Division of Structural and Functional Genomics, Center for Genome Science, National Institute of Hea

• Kim Hyung-jin

  Division Of Cardiovascular And Rare Diseases Center For Biomedical Sciences National Institute Of He

• Kim Kwang-joong

  Division Of Structural And Functional Genomics Center For Genome Science National Institute Of Healt

• Koo Soo

  Division Of Cardiovascular And Rare Diseases Center For Biomedical Sciences National Institute Of He

• Lee Jong-young

  Division Of Structural And Functional Genomics Center For Genome Science National Institute Of Healt

• Woo Hae-mi

  Division Of Cardiovascular And Rare Diseases Center For Biomedical Sciences National Institute Of He

• Park Mi-hyun

  Division Of Cardiovascular And Rare Diseases Center For Biomedical Sciences National Institute Of He

• Park Hyun-young

  Division Of Cardiovascular And Rare Diseases Center For Biomedical Science Korea National Institute Of Health

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