FIELD: medicine.
SUBSTANCE: invention may be used for determining mutation frequency in a population when analysing DNA wide samples. A method involves determining the DNA concentration in the analysed samples. A maximum possible number of samples in one pull is evaluated. The samples are mixed in the pull to be analysed for the presence of mutations in the pull by allele-specific real-time polymerase chain reaction. The pulls containing the mutation are additionally analysed by determining the range of the DNA sample concentrations within a reliable sample from all the analysed samples. After the maximum possible number of samples in one pull is determined, the pull is made of individual samples with different concentrations.
EFFECT: invention enables considerably reduced cost and length of the analysis of DNA wide samples for the presence of mutations.
3 dwg, 2 ex
| Title | Year | Author | Number |
|---|---|---|---|
| METHOD FOR MOLECULAR-GENETIC DIAGNOSIS OF HEREDITARY BREAST CANCER | 2019 |
|
RU2702755C1 |
| METHOD FOR BRCA1 AND BRCA2 GENES EXONS NUCLEOTIDE SEQUENCE DETERMINATION | 2015 |
|
RU2612894C1 |
| METHOD OF ANALYZING TERMINAL MUTATIONS IN BRCA1, BRCA2, ATM AND PALB2 GENES USING MULTIPLEX PCR AND SUBSEQUENT HYBRIDISATION WITH AN OLIGONUCLEOTIDE BIOLOGICAL MICROCHIP (BIOCHIP) | 2020 |
|
RU2729360C1 |
| METHOD FOR HUMAN GENOTYPE DETERMINATION BY 5382 GENE BRCA1 (5382insC) POSITION POLYMORPHISM | 2010 |
|
RU2445368C2 |
| METHOD OF PREDICTING THE RISK OF OVARIAN CANCER | 2015 |
|
RU2599502C1 |
| DETERMINATION OF CANCER SUSCEPTIBILITY BY IDENTIFICATION OF GENOTYPIC COMBINATIONS OF SPECIFIC VERSIONS OF CYP1B1, BRCA2 AND CHEK2 GENES | 2006 |
|
RU2470998C2 |
| METHOD OF GENOTYPING rs10104 (A>G) POLYMORPHIC LOCUS OF C19orf53 GENE IN HUMANS BY REAL-TIME PCR USING ALLELE-SPECIFIC FLUORESCENT PROBES | 2023 |
|
RU2808842C1 |
| METHOD FOR DETERMINING HUMAN GENOTYPE BY POLYMORPHOUS POSITION rs1613662 IN GP6 GENE CODING GLYCOPROTEIN VI | 2013 |
|
RU2556808C2 |
| METHOD OF PREDICTING A LOW RISK OF DEVELOPING BREAST CANCER IN WOMEN WITH HIGHLY PENETRATING MUTATIONS IN THE BRCA1 AND CHEK2 GENES | 2022 |
|
RU2798666C1 |
| DIAGNOSTIC TECHNIQUE FOR THE 167DELT (RS80338942) MUTATION OF THE GJB2 GENE | 2020 |
|
RU2739943C1 |
