FIELD: biotechnology.
SUBSTANCE: invention relates to biotechnology. A method for obtaining genes bank for diagnosing liver pathologies is proposed. Sample preparation is carried out, including several stages, including two amplifications, ligation of barcodes, several purifications and a stage of checking the quality of the DNA bank using additional verification amplification followed by phoresis. DNA bank fragments of 47 genes associated with hereditary liver pathologies is obtained. Then read the sequences of all fragments of the finished DNA bank by targeted ion semiconductor sequencing using a chip. The data obtained as a result of sequencing is analyzed for the presence of polymorphisms and mutations associated with liver pathologies. This approach can be used in the diagnosis of hereditary liver diseases in adults and children from an early age.
EFFECT: simplifies the process of simultaneous analysis of 47 genes responsible for hereditary liver diseases, reduces the time required to analyze the data obtained, and allows diagnostics of clinically similar cases with different molecular genetic damage.
7 cl, 3 tbl
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