EA201291228A1 - Биомаркер для детекции высокогорной адаптации и высокогорного отека легких - Google Patents

Биомаркер для детекции высокогорной адаптации и высокогорного отека легких

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Publication number
EA201291228A1
EA201291228A1 EA201291228A EA201291228A EA201291228A1 EA 201291228 A1 EA201291228 A1 EA 201291228A1 EA 201291228 A EA201291228 A EA 201291228A EA 201291228 A EA201291228 A EA 201291228A EA 201291228 A1 EA201291228 A1 EA 201291228A1
Authority
EA
Eurasian Patent Office
Prior art keywords
mountain
adaptation
hypoxia
altitude
gene
Prior art date
Application number
EA201291228A
Other languages
English (en)
Other versions
EA023630B1 (ru
Inventor
Бхавана Прашер
Шилпи Аггарвал
Мохаммед Абдул Кадар Паша
Митали Мукерджи
Original Assignee
Каунсел Оф Сайентифик & Индастриал Рисёч
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Каунсел Оф Сайентифик & Индастриал Рисёч filed Critical Каунсел Оф Сайентифик & Индастриал Рисёч
Publication of EA201291228A1 publication Critical patent/EA201291228A1/ru
Publication of EA023630B1 publication Critical patent/EA023630B1/ru

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Classifications

    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/118Prognosis of disease development
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers

Abstract

Изобретение относится к биомаркерам для детекции восприимчивости к высокогорной адаптации и гипоксии и способу их получения. Изобретение, в частности, относится к генным вариантам SNP ID rs479200 и rs480902 в первом интроне гена EGLN1(пролилгидроксилазы 2) в качестве биомаркеров адаптации к большой высоте и предрасположенности к высокогорному отеку легких и восприимчивости к гипоксии, использование которых предусматривает новый комплексный подход с применением концепций фенотипирования согласно Аюрведе вместе с популяционной генетикой и геномикой заболеваний. Более конкретно, С-аллель SNP ID rs480902 и Т-аллель rs479200 гена EGLN1чаще встречаются у пациентов с НАРЕ (высокогорным отеком легких) и практически отсутствуют у уроженцев горной местности. Согласно настоящему изобретению также предложены праймеры и способы, подходящие для детекции этих аллельных вариантов, с целью предсказания индивидуальной адаптируемости к большой высоте и гипоксии и/или с целью проведения генетического анализа гена EGLN1в популяции.
EA201291228A 2010-12-09 2011-10-13 Биомаркер для детекции высокогорной адаптации и высокогорного отека легких EA023630B1 (ru)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
IN1336DE2010 2010-12-09
PCT/IB2011/002415 WO2012076943A1 (en) 2010-12-09 2011-10-13 Biomarker for detecting high-altitude adaptation and high-altitude pulmonary edema

Publications (2)

Publication Number Publication Date
EA201291228A1 true EA201291228A1 (ru) 2013-07-30
EA023630B1 EA023630B1 (ru) 2016-06-30

Family

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Family Applications (1)

Application Number Title Priority Date Filing Date
EA201291228A EA023630B1 (ru) 2010-12-09 2011-10-13 Биомаркер для детекции высокогорной адаптации и высокогорного отека легких

Country Status (4)

Country Link
US (1) US20140030709A1 (ru)
AU (2) AU2011340228B2 (ru)
EA (1) EA023630B1 (ru)
WO (1) WO2012076943A1 (ru)

Families Citing this family (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR101480208B1 (ko) * 2012-10-12 2015-01-08 재단법인 게놈연구재단 저산소증 적응 형질에 대한 신규 단일염기변이 마커
US20180332219A1 (en) 2017-05-10 2018-11-15 Fotonation Limited Wearable vision system and method of monitoring a region
CN108410866B (zh) * 2018-02-05 2021-08-06 中国农业科学院北京畜牧兽医研究所 与中国家马高海拔适应性性状相关的snp标记及其应用
CN111676283B (zh) * 2020-05-19 2023-02-21 中国人民解放军总医院第七医学中心 与高原肺水肿发生相关的线粒体dna单核苷酸多态性的应用
CN111560428B (zh) * 2020-05-21 2023-04-11 中国人民解放军总医院第七医学中心 检测线粒体DNA rs3937033单核苷酸多态性的物质的用途
CN114292909B (zh) * 2022-03-10 2022-06-07 中国人民解放军总医院 SNP rs241970作为靶标在开发用于筛查高原肺水肿易感人群的试剂盒中的应用
CN114381517B (zh) * 2022-03-25 2022-06-07 中国人民解放军总医院 检测SNP rs12569857多态性在制备筛查高原肺水肿易感人群试剂盒中的应用
CN115976195B (zh) * 2022-12-13 2023-10-20 中国人民解放军军事科学院军事医学研究院 一种急性低氧不耐的分子标志物及遗传风险评估模型的构建方法

Family Cites Families (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6582908B2 (en) * 1990-12-06 2003-06-24 Affymetrix, Inc. Oligonucleotides
US20030204075A9 (en) * 1999-08-09 2003-10-30 The Snp Consortium Identification and mapping of single nucleotide polymorphisms in the human genome
AU4592601A (en) * 2000-03-21 2001-10-03 Millennium Predictive Medicine Novel genes, compositions, kits, and method for identification, assessment, prevention, and therapy of ovarian cancer
US20060246472A1 (en) * 2003-11-13 2006-11-02 Council Of Scientific And Industrial Research Method for the detection of predisposition to high altitude pulmonary edema
US7361468B2 (en) * 2004-07-02 2008-04-22 Affymetrix, Inc. Methods for genotyping polymorphisms in humans

Also Published As

Publication number Publication date
AU2011340228A9 (en) 2017-04-27
AU2011340228B2 (en) 2017-05-11
AU2011340228A1 (en) 2013-01-10
US20140030709A1 (en) 2014-01-30
AU2017202485A1 (en) 2017-05-04
EA023630B1 (ru) 2016-06-30
WO2012076943A1 (en) 2012-06-14

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MM4A Lapse of a eurasian patent due to non-payment of renewal fees within the time limit in the following designated state(s)

Designated state(s): AM AZ BY KZ KG MD TJ TM