• 我要登录|
  • 免费注册
    |
  • 我的丁香通
    • 企业机构:
    • 成为企业机构
    • 个人用户:
    • 个人中心
  • 移动端
    移动端
丁香通 logo丁香实验_LOGO
搜实验

    大家都在搜

      大家都在搜

        0 人通过求购买到了急需的产品
        免费发布求购
        发布求购
        点赞
        收藏
        wx-share
        分享

        High Throughput Modifications of Single-Strand Conformation Polymorphism Analysis: Mutation Detection in Familial Hypercholesterolemia

        互联网

        317
        In most patients with familial hypercholesterolemia (FH) the disorder is caused by a mutation in the gene coding for the low density lipoprotein receptor (LDL-R) (1 ). The variety of different defects observed in receptor function at the cellular level reflects mutations in different domains of the gene, and there is an increasing number of pointers to suggest that genetic factors influence clinical severity. The diagnosis of FH on clinical grounds is not 100% accurate, and some hypercholesterolemic individuals may not have a mutation in the LDL-R gene, whereas some individuals who would not be included in the clinical criteria do have such a mutation. The purpose of this chapter is to Illustrate the use of the single-strand conformational polymorphism (SSCP) technique for mutation screening in the LDL-R gene and to discuss several adaptations of published methods that improve throughput, and that we believe are appropriate for a disorder such as FH. In the next few years such techniques will help to tackle molecular diagnosis and family tracing in the large number of FH patients present in Europe and North America.
        ad image
        提问
        扫一扫
        丁香实验小程序二维码
        实验小助手
        丁香实验公众号二维码
        扫码领资料
        反馈
        TOP
        打开小程序