RU2015155617A - Method for the simultaneous diagnosis of hereditary diseases - Google Patents

Method for the simultaneous diagnosis of hereditary diseases Download PDF

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RU2015155617A
RU2015155617A RU2015155617A RU2015155617A RU2015155617A RU 2015155617 A RU2015155617 A RU 2015155617A RU 2015155617 A RU2015155617 A RU 2015155617A RU 2015155617 A RU2015155617 A RU 2015155617A RU 2015155617 A RU2015155617 A RU 2015155617A
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hereditary
type
syndrome
primers
soph
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RU2015155617A
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RU2627115C2 (en
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Мира Таиржановна Саввина
Надежда Романовна Максимова
Артем Александрович Кузнецов
Полина Иннокентьевна Гурьева
Анастасия Лукична Данилова
Айталина Лукична Сухомясова
Владимир Сергеевич Каймонов
Александра Еремеевна Яковлева
Харитон Алексеевич Куртанов
Елена Ивановна Алексеева
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федеральное государственное автономное образовательное учреждение высшего образования "Северо-Восточный федеральный университет им. М.К. Аммосова"
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    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
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    • C12Q2531/00—Reactions of nucleic acids characterised by
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    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/16—Primer sets for multiplex assays
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    • G01—MEASURING; TESTING
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    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/70—Mechanisms involved in disease identification
    • G01N2800/7057—(Intracellular) signaling and trafficking pathways
    • G01N2800/7066—Metabolic pathways
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/70—Mechanisms involved in disease identification
    • G01N2800/7057—(Intracellular) signaling and trafficking pathways
    • G01N2800/7066—Metabolic pathways
    • G01N2800/7076—Amino acid metabolism
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing

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Claims (6)

1. Способ одновременной диагностики наследственных заболеваний на основе использования биочипа с иммобилизованными на его поверхности олигонуклеотидными мишенями для детекции точковых мутаций в генах CUL7, NBAS, DIA1, FAH, и GJB2, вызывающих 3М-синдром, SOPH-синдром, наследственную энзимопеническую метгемоглобинемию 1 типа, тирозинемию 1 типа, наследственную несиндромальную глухоту 1А типа, соответственно, включающий следующие стадии:1. A method for the simultaneous diagnosis of hereditary diseases based on the use of a biochip with oligonucleotide targets immobilized on its surface for the detection of point mutations in the CUL7, NBAS, DIA1, FAH, and GJB2 genes that cause 3M syndrome, SOPH syndrome, hereditary type 1 hemoglobinemia enzyme, tyrosinemia type 1, hereditary nonsyndromic deafness type 1A, respectively, comprising the following stages: двухстадийной мультиплексной полимеразной цепной реакции с использованием специфичных для каждого участка гена праймеров и флуоресцентно меченых праймеров на второй стадии полимеразной цепной реакции;a two-stage multiplex polymerase chain reaction using specific primers for each region of the gene and fluorescently labeled primers in the second stage of the polymerase chain reaction; гибридизации полученных продуктов полимеразной цепной реакции;hybridization of the resulting polymerase chain reaction products; регистрации флуоресцентных сигналов с гибридизованных на биочипе апмликонов;registration of fluorescent signals from apmlicons hybridized on a biochip; интерпретации результатов.interpretation of the results. 2. Набор праймеров для амплификации участков генов CUL7, NBAS, DIA1, FAH, и GJB2, вызывающих 3-М синдром, SOPH-синдром, наследственную энзимопеническую метгемоглобинемию, тирозинемию 1А типа, наследственную несиндромальную глухоту 1А типа, соответственно, в способе по п. 1: праймерами являются олигонуклеотиды для 3-М-синдрома (F) 5' CCCTCAGCTTGCAGGTACGTCTGA 3', (R) 5' AAGGATATCCAGGAGGTATGCACT 3'; для SOPH-синдрома (F) 5' TTGTTCTAACTCATTAACACTTGCTGAAT 3', (R) 5' TCTTGAGCTTCGTCTTCTGAGTTTCTT 3'; для наследственной несиндромальной глухоты 1А типа (F) 5' CAGGACCCGCCTAGGAGCGCAGGA 3', (R) 5' GCCGGGCAACCGCTCTGGGTCTC 3'; для наследственной энзимопенической метгемоглобинемии 1 типа (F) 5' CCACACGTCAGCTTACCTGGTCTCTC 3', 5' CGTGCCCGGCCCTCAGAAGACGAAGC 3'; для тирозинемии 1 типа (F) 5' GGAGCCAGAAAACTTCGGCTCCATG 3', (R) 5' CCTCACCTGTTATGATGACTTCATC 3'. 2. A set of primers for amplification of sections of the CUL7, NBAS, DIA1, FAH, and GJB2 genes that cause 3-M syndrome, SOPH-syndrome, hereditary enzyme methemoglobinemia, tyrosinemia type 1A, hereditary nonsyndromic deafness type 1A, respectively, in the method according to p. 1: primers are oligonucleotides for 3-M syndrome (F) 5 'CCCTCAGCTTGCAGGTACGTCTGA 3', (R) 5 'AAGGATATCCAGGAGGTATGCACT 3'; for SOPH syndrome (F) 5 'TTGTTCTAACTCATTAACACTTGCTGAAT 3', (R) 5 'TCTTGAGCTTCGTCTTCTGAGTTTCTT 3'; for hereditary nonsyndromic deafness 1A type (F) 5 'CAGGACCCGCCTAGGAGCGCAGGA 3', (R) 5 'GCCGGGCAACCGCTCTGGGTCTC 3'; for hereditary enzyme methemoglobinemia type 1 (F) 5 'CCACACGTCAGCTTACCTGGTCTCTC 3', 5 'CGTGCCCGGCCCTCAGAAGACGAAGC 3'; for tyrosinemia type 1 (F) 5 'GGAGCCAGAAAACTTCGGCTCCATG 3', (R) 5 'CCTCACCTGTTATGATGACTTCATC 3'.
RU2015155617A 2015-12-24 2015-12-24 Method for simultaneous diagnosis of hereditary diseases RU2627115C2 (en)

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Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN111785323A (en) * 2020-07-07 2020-10-16 上海交通大学医学院附属第九人民医院 Analysis system based on genetic disease pathogenic gene and application thereof

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RU2739889C1 (en) * 2020-04-22 2020-12-29 Федеральное государственное автономное образовательное учреждение высшего образования "Российский национальный исследовательский медицинский университет имени Н.И. Пирогова" Министерства здравоохранения Российской Федерации (ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России) Diagnostic technique of 35delg (rs80338939) mutation of gjb2 gene
RU2746055C1 (en) * 2020-04-22 2021-04-06 Федеральное государственное автономное образовательное учреждение высшего образования "Российский национальный исследовательский медицинский университет имени Н.И. Пирогова" Министерства здравоохранения Российской Федерации (ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России) Method for diagnosing mutation c.-23+1g>a (rs80338940) of the gjb2 gene

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RU2458131C1 (en) * 2010-12-07 2012-08-10 Федеральное бюджетное учреждение науки Институт молекулярной биологии им.В.А.Энгельгардта Test system for mutation detection in human fumarylacetoacetate hydrolase and alpha-1-antitrypsin genes

Cited By (1)

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Publication number Priority date Publication date Assignee Title
CN111785323A (en) * 2020-07-07 2020-10-16 上海交通大学医学院附属第九人民医院 Analysis system based on genetic disease pathogenic gene and application thereof

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