CODON SIGNATURE FOR NEUROMYELITIS OPTICA

摘要

The present invention provides for the diagnosis and prediction of neuromyelitis optica (NMO) in subject utilizing a unique a codon signature in B cells that has now been associated with NMO and not with any other autoimmune disease. More particularly, the method may comprise the steps of (a) providing a 10 B-cell containing sample from a subject, or DNA or RNA isolated therefrom; (b) determining the VH1 and/or VH4 structure of VH1NH4-expressing B-cells from said subject, (c) determining the mutational frequency VH1 and/or VH4 genes; (d) identifying the presence or absence of a codon signature associated with NMO or risk of NMO; and (e) selecting patients exhibiting said codon signature.

主权项

1. A method for selecting a human subject having or at risk of developing neuromyelitis optica (NMO) comprising:
(a) providing a B-cell containing sample from a subject, or DNA or RNA isolated therefrom; (b) determining the VH1 and/or VH4 structure of VH1/VH4-expressing B-cells from said subject, (c) determining the mutational frequency VH1 and/or VH4 genes; (d) identifying the presence or absence of a codon signature associated with NMO or risk of NMO; and (e) selecting patients exhibiting said codon signature.