Patent ID: 7297492
Filing Date: 2007-11-20
Classification: C07K,C12Q,G01N,Y10T

Abstract:
1. A method of detecting Hutchinson-Gilford Progeria Syndrome in a subject, comprising determining whether the subject has a mutant LMNA sequence, wherein determining whether the subject has a mutant LMNA sequence comprises reacting at least one LMNA nucleic acid molecule contained in a sample from the subject with a reagent comprising a LMNA-specific oligonucleotide to form a LMNA:oligonucleotide complex, wherein the mutant LMNA sequence encodes: (a) SEQ ID NO: 7; (b) a sequence having at least 95% sequence identity to SEQ ID NO: 7 and containing Mutation 1 (G608G(GGC>GGT)) or Mutation 2 (G608S(GGC>AGC)); or (c) a conservative variant of (a) containing Mutation 1 (G608G(GGC>GGT)) or Mutation 2 (G608S(GGC>AGC)).