Global Patent Index - EP 1432831 A4

EP 1432831 A4 20060614 - HUMAN MITOCHONDRIAL DNA POLYMORPHISMS, HAPLOGROUPS, ASSOCIATIONS WITH PHYSIOLOGICAL CONDITIONS, AND GENOTYPING ARRAYS

Title (en)

HUMAN MITOCHONDRIAL DNA POLYMORPHISMS, HAPLOGROUPS, ASSOCIATIONS WITH PHYSIOLOGICAL CONDITIONS, AND GENOTYPING ARRAYS

Title (de)

MENSCHLICHE MITOCHONDRIALE DNA-POLYMORPHISMEN, HAPLOGRUPPEN, ASSOZIATIONEN MIT PHYSIOLOGISCHEN LEIDEN SOWIE GENOTYPISCHE ARRAYS

Title (fr)

POLYMORPHISMES D'ADN MITOCHONDRIAL HUMAIN, HAPLOGROUPES, ASSOCIATIONS AVEC DES CONDITIONS PHYSIOLOGIQUES ET RESEAUX DE GENOTYPAGE

Publication

EP 1432831 A4 20060614 (EN)

Application

EP 02796465 A 20020830

Priority

  • CA 2356536 A 20010831
  • US 0228471 W 20020830
  • US 31633301 P 20010830
  • US 38054602 P 20020513

Abstract (en)

[origin: WO03018775A2] This inention provides human mtDNA polymorphisms that are diagnostic of all the major human haplogroups and methods of diagnosing those haplogroups and selected subhaplogroups. This invention also provides methods for identifying evolutionarily significant mitochondrial DNA genes, nucleotide alleles, and amino acid alleles. Evolutionarily significant genes and alleles are identified using one or two populations of a single species. The process of identifying evolutionarily significant nucleotide alleles involves identifying evolutionarily significant genes and then evolutionarily significant nucleotide alleles in those genes, and identifying evolutionarily significant amino acid alleles involves identifying amino acids encoded by all nonsynonymous alleles. Synonymous codings of the nucleotide alleles encoding evolutionarily significant amino acid alleles of this invention are equivalent to the evolutionarily significant amino acid alleles disclosed herein and are included within the scope of this invention. Synonymous codings include alleles at neighboring nucleotide loci that are within the same codon. This invention also provides methods for associating haplogroups and evolutionarily significant nucleotide and amino acid alleles with predispositions to physiological conditions. Methods for diagnosing predisposition to LHON, and methods for diagnosing increased likelihood of developing blindness, centenaria, and increased longevity that are not dependent on the geographical location of the individual being diagnosed are provided herein. Diagnosis of an individual with a predisposition to an energy metabolism-related physiological condition is dependent on the geographic region of the individual. Physiological conditions diagnosable by the methods of this invention include healthy conditions and pathological conditions. Physiological conditions that are associated with haplogroups and with alleles provided by this invention include energetic imbalance, metabolic disease, abnormal energy metabolism, abnormal temperature regulation, abnormal oxidative phosphorylation, abnormal electron transport, obesity, amount of body fat, diabetes, hypertension, and cardiovascular disease.

IPC 1-7

C12Q 1/68; C07H 21/02; C07H 21/04

IPC 8 full level

G01N 33/53 (2006.01); C12N 15/09 (2006.01); C12Q 1/68 (2006.01); G01N 33/566 (2006.01); G01N 37/00 (2006.01)

CPC (source: EP)

C12Q 1/6883 (2013.01); C12Q 2600/156 (2013.01)

Citation (search report)

  • [A] WO 9838335 A1 19980903 - MITOKOR [US]
  • [X] INGMAN M ET AL: "MITOCHONDRIAL GENOME VARATION AND THE ORIGIN OF MODERN HUMANS", NATURE, NATURE PUBLISHING GROUP, LONDON, GB, vol. 408, 7 December 2000 (2000-12-07), pages 708 - 713, XP000978078, ISSN: 0028-0836
  • [X] DATABASE EMBL [online] 17 March 2001 (2001-03-17), "Homo sapiens mitochondrion, complete genome.", XP002358437, retrieved from EBI accession no. EM_PRO:AF346985 Database accession no. AF346985
  • [X] HELGASON A ET AL: "MTDNA AND THE ORIGIN OF THE ICELANDERS: DECIPHERING SIGNALS OF RECENT POPULATION HISTORY", AMERICAN JOURNAL OF HUMAN GENETICS, AMERICAN SOCIETY OF HUMAN GENETICS, CHICAGO, IL, US, vol. 66, no. 3, 2000, pages 999 - 1016, XP001064616, ISSN: 0002-9297
  • [X] DATABASE EMBL [online] 9 October 2000 (2000-10-09), "Homo sapiens Icelandic ice153 mitochondrial control region HVS2, partial sequence.", XP002358438, retrieved from EBI accession no. EM_PRO:AF306121 Database accession no. AF306121
  • [X] VIGILANT L ET AL: "African populations and the evolution of human mitochondrial DNA.", SCIENCE. 27 SEP 1991, vol. 253, no. 5027, 27 September 1991 (1991-09-27), pages 1503 - 1507, XP001207778, ISSN: 0036-8075
  • [X] DATABASE EMBL [online] 25 October 1991 (1991-10-25), "Human (African American) Mitochondrial DNA control region, sequence 3.", XP002358439, retrieved from EBI accession no. EM_PRO:HSMTDL003 Database accession no. M76237
  • [X] ERDOGAN F ET AL: "Detection of mitochondrial single nucleotide polymorphisms using a primer elongation reaction on oligonucleotide microarrays.", NUCLEIC ACIDS RESEARCH. 1 APR 2001, vol. 29, no. 7, 1 April 2001 (2001-04-01), pages E36, XP002358222, ISSN: 1362-4962
  • [X] GABRIEL M N ET AL: "Population variation of human mitochondrial DNA hypervariable regions I and II in 105 Croatian individuals demonstrated by immobilized sequence-specific oligonucleotide probe analysis.", CROATIAN MEDICAL JOURNAL. JUN 2001, vol. 42, no. 3, June 2001 (2001-06-01), pages 328 - 335, XP009058122, ISSN: 0353-9504
  • [A] GERHOLD D ET AL: "DNA chips: promising toys have become powerful tools", TRENDS IN BIOCHEMICAL SCIENCES, ELSEVIER, HAYWARDS, GB, vol. 24, no. 5, 1 May 1999 (1999-05-01), pages 168 - 173, XP004167912, ISSN: 0968-0004
  • See references of WO 03018775A2

Designated contracting state (EPC)

AT BE BG CH CY CZ DE DK EE ES FI FR GB GR IE IT LI LU MC NL PT SE SK TR

DOCDB simple family (publication)

WO 03018775 A2 20030306; WO 03018775 A3 20031023; EP 1432831 A2 20040630; EP 1432831 A4 20060614; JP 2005525082 A 20050825

DOCDB simple family (application)

US 0228471 W 20020830; EP 02796465 A 20020830; JP 2003523626 A 20020830