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摘要:<正>Juvenile idiopathic arthritis(JIA) is a broad term describing all forms of arthritis that begin before age of sixteen,endure for more than 6 weeks,with unknown etiology. Recently,next-generation sequencing(NGS) technologies provide powerful tools to study complex diseases.Within those technologies,exome sequencing has been proved to decipher successfully some rare diseases.To narrow down possible etiological targets from large amounts of sequence data derive form NGS;family-based studies can be great help.We are performing a JIA study using exome sequencing form 9 families with 40 individual samples,including JIA patient and patient’s first degree relatives.Our previous study have revealed that some human endogenous retroviruses(HERV) can be associated with JIA with significant differences in patients’ genomic DNA copy numbers and RNA expression level.Sequence data,result analysis and functional assay validation of this study will help us to elucidate the etiology and pathogenesis of juvenile idiopathic arthritis.
会议名称:

2011 Genome-wide Association Study Workshop

会议时间:

2011-05-19

会议地点:

中国安徽合肥

  • 专辑:

    医药卫生科技

  • 专题:

    外科学

  • 分类号:

    R684

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