FIELD: medicine.
SUBSTANCE: method for simultaneous diagnosis of hereditary diseases based on the use of a biochip with oligonucleotide targets immobilized on its surface is proposed, including detection of point mutations in CUL7, NBAS, DIA1, FAH and GJB2 genes, causing 3M syndrome, SOPH syndrome, hereditary enzyme type 1 methemoglobinemia, type 1 tyrosinemia and type 1A hereditary nonsyndromic deafness, respectively.
EFFECT: invention allows to diagnose hereditary diseases in the shortest possible time.
2 dwg, 5 tbl
| Title | Year | Author | Number |
|---|---|---|---|
| DIAGNOSTIC TECHNIQUE OF 35DELG (RS80338939) MUTATION OF GJB2 GENE | 2020 |
|
RU2739889C1 |
| DIAGNOSTIC TECHNIQUE FOR THE 167DELT (RS80338942) MUTATION OF THE GJB2 GENE | 2020 |
|
RU2739943C1 |
| METHOD FOR DIAGNOSING MUTATION C.-23+1G>A (RS80338940) OF THE GJB2 GENE | 2020 |
|
RU2746055C1 |
| METHOD OF DETECTING MUTATIONS OF GJB2 GENE CAUSING AUTOSOMAL-RECESSIVE DEAFNESS 1A TYPE | 2017 |
|
RU2688180C1 |
| METHOD FOR DIAGNOSING VARIANT SOPH c.5741G>A IN NBAS GENE | 2024 |
|
RU2819985C1 |
| METHOD FOR DIAGNOSING 3-M SYNDROME YAKUT POPULATION | 2006 |
|
RU2315310C1 |
| METHOD FOR DETECTING 17 GJB2 AND GJB6 GENE MUTATIONS ACCOMPANYING NONSYNDROMIC DEAFNESS | 2010 |
|
RU2448163C2 |
| METHOD OF DNA-DIAGNOSTICS OF AUTOSOMAL RECESSIVE DEAFNESS-103 | 2019 |
|
RU2727684C1 |
| METHOD FOR POINT MUTATION DIAGNOSING IN NATIVE DNA USING GRAPHENE OXIDE | 2015 |
|
RU2614111C1 |
| METHOD FOR REVEALING c-53-2A>G MUTATION IN PRESTIN GENE (SLC26A5) CAUSING DEVELOPMENT OF NON-SYNDROME-BASED AUTSOMAL-RECESSIVE DEAFNESS | 2012 |
|
RU2505608C1 |
