• 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

        Molecular Diagnosis of Congenital Immunodeficiency

        互联网

        416
        The congenital immunodeficiencies are a group of inherited conditions in which there are defects of immune function. The last decade has seen the identification of most of the genes defective in these disorders (1 ). Diagnostic genetic assays have been developed for many of these conditions so that a molecular diagnosis can be assigned to individuals and genetic testing offered for carrier status and antenatal diagnosis. Most genetic testing now involves screening the gene for the defective exon using one of a number of techniques, the most popular of which is single-stranded conformational polymorphism (SSCP) analysis (2 ). Once the affected region is identified, direct sequence analysis can be performed to identify the precise mutation. This procedure has a number of disadvantages. If a gene has many exons, screening the gene using SSCP can be time consuming, and in cases where the clinical picture is ambiguous or atypical, can result in diagnostic delay. The sensitivity of the SSCP technique is also only 85% and thus a number of affected cases may be left undiagnosed.
        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