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1. (WO2014181107) GENETIC METHOD OF AIDING THE DIAGNOSIS AND TREATMENT OF FAMILIAL HYPERCHOLESTEROLAEMIA
Latest bibliographic data on file with the International Bureau   

Pub. No.:    WO/2014/181107    International Application No.:    PCT/GB2014/051399
Publication Date: 13.11.2014 International Filing Date: 08.05.2014
IPC:
C12Q 1/68 (2006.01)
Applicants: MEDICAL RESEARCH COUNCIL [GB/GB]; 2nd Floor, David Philips Building, Polaris House North Star Avenue Swindon SN2 1FL (GB)
Inventors: AITMANN, Timothy J.; (GB).
VANDROVKOVA, Jana; (GB)
Agent: SCRIPT IP LIMITED; 18 Bridge Street Frome Somerset BA11 1BB (GB)
Priority Data:
1308313.4 09.05.2013 GB
Title (EN) GENETIC METHOD OF AIDING THE DIAGNOSIS AND TREATMENT OF FAMILIAL HYPERCHOLESTEROLAEMIA
(FR) PROCÉDÉ DE DOSAGE
Abstract: front page image
(EN)The invention relates to a method for collecting information useful in aiding the diagnosis and treatment of familial hypercholesterolaemia (FH), the method comprising providing a sample of DNA from the subject, assaying said DNA for (i) mutation in one or more genes which is indicative of FH diagnosis (ii) presence of one or more SNPs indicative of incremental risk of high cholesterol; and (iii) mutation in a gene which is indicative of likelihood of statin toxicity; wherein assaying said DNA comprises the step of contacting said DNA sample with one or more primers for amplification and/or sequencing of the relevant segment(s) of said DNA characterised in that each of said assays of steps (i), (ii) and (iii) is carried out in a single assay cycle. The invention also relates to a method of treatment, and to primers.
(FR)La présente invention concerne un procédé de collecte d'informations utiles pour aider au diagnostic et au traitement de l'hypercholestérolémie familiale (HF), le procédé comprenant la fourniture d'un échantillon d'ADN du sujet, le dosage dans ledit ADN (i) de la mutation dans un ou plusieurs gènes indiquant un diagnostic de HF ; (ii) de la présence d'un ou plusieurs SNP indiquant un risque accru de cholestérol élevé ; et (iii) de la mutation dans un gène indiquant une probabilité de toxicité des statines ; le dosage dudit ADN comprenant l'étape de mise en contact dudit échantillon d'ADN avec une ou plusieurs amorces d'amplification et/ou de séquençage du (des) segment(s) pertinent(s) dudit ADN caractérisé en ce que chacune desdites étapes de dosage (i), (ii) et (iii) sont réalisées en un seul cycle de dosage. L'invention concerne en outre un procédé de traitement, et des amorces.
Designated States: AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DK, DM, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IR, IS, JP, KE, KG, KN, KP, KR, KZ, LA, LC, LK, LR, LS, LT, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW.
African Regional Intellectual Property Organization (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, SZ, TZ, UG, ZM, ZW)
Eurasian Patent Organization (AM, AZ, BY, KG, KZ, RU, TJ, TM)
European Patent Office (AL, AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, SM, TR)
African Intellectual Property Organization (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG).
Publication Language: English (EN)
Filing Language: English (EN)