METHOD FOR DIAGNOSING MUTATION C.-23+1G>A (RS80338940) OF THE GJB2 GENE Russian patent published in 2021 - IPC C12Q1/68 G01N33/50 

Abstract RU 2746055 C1

FIELD: biotech.

SUBSTANCE: invention relates to the field of biotechnology, namely to molecular biology, medical genetics and otorhinolaryngology. Disclosed are synthetic oligonucleotides for the diagnosis (genotyping) of the c-23+1G>A(rs80338940) mutation of the GJB2 gene in human biomaterial. The primers are combined into kits for detecting DNA in blood and other biological materials by polymerase chain reaction.

EFFECT: invention enables highly sensitive diagnostics of congenital hereditary deafness of a person in biological material. The use of this method also provides a highly sensitive and objective description of the human genotype with the determination of homozygous and heterozygous carriers of this mutation.

1 cl, 2 dwg, 2 tbl

Similar patents RU2746055C1

Title Year Author Number
DIAGNOSTIC TECHNIQUE OF 35DELG (RS80338939) MUTATION OF GJB2 GENE 2020
  • Lolomadze Elena Anatolevna
  • Rebrikov Denis Vladimirovich
RU2739889C1
DIAGNOSTIC TECHNIQUE FOR THE 167DELT (RS80338942) MUTATION OF THE GJB2 GENE 2020
  • Lolomadze Elena Anatolevna
  • Rebrikov Denis Vladimirovich
RU2739943C1
METHOD FOR DETECTION OF MUTATIONS INGJB2 GENE ACCOMPANYING WITH DEVELOPMENT OF NONSYNDROMAL AUTOSOMAL-RECESSIVE DEAFNESS 2006
  • Dzhemileva Lilja Useinovna
  • Khusnutdinova Ehl'Za Kamilevna
  • Khidijatova Irina Mikhajlovna
  • Khabibullin Ramil' Midkhatovich
  • Tazetdinov Andrej Mauletzjanovich
RU2317547C1
METHOD FOR DETECTING 17 GJB2 AND GJB6 GENE MUTATIONS ACCOMPANYING NONSYNDROMIC DEAFNESS 2010
  • Barashkov Nikolaj Alekseevich
  • Dzhemileva Lilja Useinovna
  • Posukh Ol'Ga Leonidovna
  • Fedorova Sardana Arkad'Evna
  • Khusnutdinova Ehl'Za Kamilevna
RU2448163C2
METHOD FOR DIFFERENTIAL AND CONFIRMING MOLECULAR GENETIC DIAGNOSIS OF SENSORINEURAL HEARING LOSS IN A POPULATION OF CHUVASH 2021
  • Zinchenko Rena Abulfazovna
  • Petrova Nika Valentinovna
  • Balinova Natalya Valerevna
  • Konovalov Fedor Andreevich
  • Marakhonov Andrej Vladimirovich
  • Vasileva Tatyana Alekseevna
  • Abrukova Anna Viktorovna
  • Kadyshev Vitalij Viktorovich
  • Kutsev Sergej Ivanovich
RU2768033C1
METHOD OF DETECTING MUTATIONS OF GJB2 GENE CAUSING AUTOSOMAL-RECESSIVE DEAFNESS 1A TYPE 2017
  • Pshennikova Vera Gennadievna
  • Barashkov Nikolaj Alekseevich
  • Solovev Ajsen Vasilevich
  • Teryutin Fedor Mikhajlovich
  • Romanov Georgij Prokopevich
  • Klarov Leonid Aleksandrovich
  • Posukh Olga Leonidovna
  • Dzhemileva Lilya Useinovna
  • Khusnutdinova Elza Kamilevna
  • Fedorova Sardana Arkadevna
RU2688180C1
METHOD FOR REVEALING c-53-2A>G MUTATION IN PRESTIN GENE (SLC26A5) CAUSING DEVELOPMENT OF NON-SYNDROME-BASED AUTSOMAL-RECESSIVE DEAFNESS 2012
  • Dzhemileva Lilja Useinovna
  • Lobov Semen Leonidovich
  • Khusnutdinova Ehl'Za Kamilevna
RU2505608C1
METHOD OF DNA-DIAGNOSTICS OF AUTOSOMAL RECESSIVE DEAFNESS-103 2019
  • Barashkov Nikolaj Alekseevich
  • Pshennikova Vera Gennadievna
  • Romanov Georgij Prokopevich
  • Solovev Ajsen Vasilevich
  • Nakhodkin Sergej Sergeevich
  • Teryutin Fedor Mikhajlovich
  • Gotovtsev Nurgun Naumovich
  • Nikanorova Alena Afanasevna
  • Klarov Leonid Aleksandrovich
  • Posukh Olga Leonidovna
  • Khusnutdinova Elza Kamilevna
  • Fedorova Sardana Arkadevna
RU2727684C1
METHOD OF DETECTING MUTATIONS IN GENE MYO7A, ACCOMPANIED BY DEVELOPMENT OF NON-SYNDROMIC AUTOSOMAL RECESSIVE DEAFNESS AND USHER SYNDROME 2013
  • Dzhemileva Lilja Useinovna
  • Lobov Semen Leonidovich
  • Kuznetsov Dmitrij Jur'Evich
  • Khusnutdinova Ehl'Za Kamilevna
RU2555755C1
METHOD FOR PREIMPLANTATION GENETIC TESTING OF NON-SYNDROMIC SENSORINEURAL HEARING LOSS 2022
  • Isaev Artur Aleksandrovich
  • Musatova Elizaveta Valerevna
  • Sofronova Yana Vladislavovna
  • Zhikrivetskaya Svetlana Olegovna
  • Pomerantseva Ekaterina Alekseevna
  • Marakhonov Andrej Vladimirovich
  • Kushnir Arina Leonidovna
RU2791878C1

RU 2 746 055 C1

Authors

Lolomadze Elena Anatolevna

Rebrikov Denis Vladimirovich

Dates

2021-04-06Published

2020-04-22Filed