NEW DIAGNOSTIC MARKER FOR GENE MUTANT RELATING TO NEUROLOGICAL FUNCTION

PROBLEM TO BE SOLVED: To detect Alzheimer's disease(AD), especially familial adult Alzheimer' s disease(FAD) by detecting a transcripted product having a VRXQ insertion or reduction in manifestation of protein coded therefrom. SOLUTION: A missense mutation in presenirin (PS-1) gene is disc...

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Hauptverfasser:	HARDY JOHN, GOATE ALISON M, BARTON AMANDA J L
Format:	Patent
Sprache:	eng
Schlagworte:	BEER BIOCHEMISTRY CHEMISTRY COMPOSITIONS THEREOF CULTURE MEDIA ENZYMOLOGY METALLURGY MICROBIOLOGY MICROORGANISMS OR ENZYMES MUTATION OR GENETIC ENGINEERING ORGANIC CHEMISTRY PEPTIDES PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS SPIRITS VINEGAR WINE
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Zusammenfassung:	PROBLEM TO BE SOLVED: To detect Alzheimer's disease(AD), especially familial adult Alzheimer' s disease(FAD) by detecting a transcripted product having a VRXQ insertion or reduction in manifestation of protein coded therefrom. SOLUTION: A missense mutation in presenirin (PS-1) gene is discovered in Alzheimer's disease morbid in its early stage. A new mutant of (PS-1) protein separated from a cDNA library of human cerebellum contains 4 amino acids VRSQ and has at least 70%. identity with a polynucleotide which codes a polypeptide of the formula. A motif VRXQ (X is a hydrophilic amino acid) is generated from an abnormal splicing. A mRNA is detected and quantitatively determined by an oligonucleotide having the arrangement of an anticodon relating to the VRXQ motif and reduction of manifestation of a PS-1 transcripted product which codes the VRSQ motif relates to chromosome 14 FAD and the oligonucleotide is useful as a diagnostic agent.