METHOD OF DETECTING MUTATIONS IN GENE MYO7A, ACCOMPANIED BY DEVELOPMENT OF NON-SYNDROMIC AUTOSOMAL RECESSIVE DEAFNESS AND USHER SYNDROME Russian patent published in 2015 - IPC C12Q1/68 

Abstract RU 2555755 C1

FIELD: biotechnology.

SUBSTANCE: method comprises isolation of DNA from lymphocytes in peripheral blood by the method of phenol-chloroform extraction, carrying out of PCR, amplification of 18 parts of gene MYO7A, detection in the denaturing acrylamide gel and sequencing. PCR is carried out using specially selected sequences of oligonucleotides flanking regions of 18 exons of the gene MYO7A with possible content of different mutations.

EFFECT: invention enables to simplify the method and to improve the accuracy of determining mutations of the gene MYO7A, to reduce the time of the study.

3 dwg, 1 ex

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RU 2 555 755 C1

Authors

Dzhemileva Lilja Useinovna

Lobov Semen Leonidovich

Kuznetsov Dmitrij Jur'Evich

Khusnutdinova Ehl'Za Kamilevna

Dates

2015-07-10Published

2013-12-30Filed