METHOD FOR DETERMINATION OF UNKNOWN MUTATIONS
    1.
    发明申请
    METHOD FOR DETERMINATION OF UNKNOWN MUTATIONS 审中-公开
    用于确定未知突变的方法

    公开(公告)号:US20120116232A1

    公开(公告)日:2012-05-10

    申请号:US13249500

    申请日:2011-09-30

    IPC分类号: A61B6/00

    摘要: The present invention relates to a method of using Raman spectra to identify unknown mutations in a gene, more specifically the filaggrin gene. Specifically, the present invention relates to a method to determine if a person has a homozygous or compound heterozygous mutation in the filaggrin-gene comprising measurement of the presence of tyrosine in the skin. Preferably said measurements are performed by Rama spectrography and on the tsiie of the skin, most preferably on the palm of the hand. Further, when these measurements are taken together with measurements of the NMF content of the skin it, the present invention relates to a method of classifying atopic dermatitis.

    摘要翻译: 本发明涉及使用拉曼光谱来鉴定基因中未知突变的方法,更具体地说是丝聚蛋白基因。 具体地,本发明涉及一种确定人是否在丝聚蛋白基因中具有纯合或复合杂合突变的方法,包括测量皮肤中酪氨酸的存在。 优选地,所述测量由拉玛光谱法和皮肤上的皮肤进行,最优选在手掌上进行。 此外,当这些测量与皮肤的NMF含量的测量一起使用时,本发明涉及对特应性皮炎进行分类的方法。