4 research outputs found
Π‘ΠΈΠ½ΡΠ΅Π· ΡΡΠΎΠΊΡΠΈΠΈΠΌΠΈΠ½ΠΎΠΏΡΠΎΠΈΠ·Π²ΠΎΠ΄Π½ΡΡ 2-Π°ΡΠΈΠ»ΡΠΈΠΊΠ»ΠΎΠ³Π΅ΠΊΡΠ°Π½-1,3-Π΄ΠΈΠΎΠ½ΠΎΠ² Ρ ΡΡΠ°Π»ΠΈΠΌΠΈΠ΄Π½ΡΠΌ Π·Π°ΠΌΠ΅ΡΡΠΈΡΠ΅Π»Π΅ΠΌ Π² Π°ΡΠΈΠ»ΡΠ½ΠΎΠΉ ΡΠ΅ΠΏΠΈ
A number of 2-acylcyclohexane-1,3-diones with phthalimidoyl substituent in the side chain have been synthesized through acylation of 5-mesitylcyclohexane-1,3-dione and dimedone by the terminal phthalimidoyl substituted acetic, propionic and butyric acid chlorides. Depending on the length of the acyl chain, these Ρ-triketones in the reaction with ethoxy-amine formed ethoxyimino derivatives both at acyl carbonyl group and at ring oxo group.ΠΡΠΈΠ»ΠΈΡΠΎΠ²Π°Π½ΠΈΠ΅ΠΌ 5-ΠΌΠ΅Π·ΠΈΡΠΈΠ»ΡΠΈΠΊΠ»ΠΎΠ³Π΅ΠΊΡΠ°Π½-1,3-Π΄ΠΈΠΎΠ½Π° ΠΈ Π΄ΠΈΠΌΠ΅Π΄ΠΎΠ½Π° Ρ
Π»ΠΎΡΠ°Π½Π³ΠΈΠ΄ΡΠΈΠ΄Π°ΠΌΠΈ ΡΡΠ°Π»ΠΈΠΌΠΈΠ΄ΠΎΡΠΊΡΡΡΠ½ΠΎΠΉ, Π -ΡΡΠ°Π»ΠΈΠΌΠΈΠ΄ΠΎΠΏΡΠΎΠΏΠΈΠΎΠ½ΠΎΠ²ΠΎΠΉ ΠΈ Ρ-ΡΡΠ°Π»ΠΈΠΌΠΈΠ΄ΠΎΠΌΠ°ΡΠ»ΡΠ½ΠΎΠΉ ΠΊΠΈΡΠ»ΠΎΡ ΡΠΈΠ½ΡΠ΅Π·ΠΈΡΠΎΠ²Π°Π½Ρ ΡΠΎΠΎΡΠ²Π΅ΡΡΡΠ²ΡΡΡΠΈΠ΅ ΡΠΈΠΊΠ»ΠΎΠ³Π΅ΠΊΡΠ°Π½ΠΎ-Π²ΡΠ΅ Π -ΡΡΠΈΠΊΠ΅ΡΠΎΠ½Ρ, ΠΊΠΎΡΠΎΡΡΠ΅ Π² Π·Π°Π²ΠΈΡΠΈΠΌΠΎΡΡΠΈ ΠΎΡ Π΄Π»ΠΈΠ½Ρ Π°ΡΠΈΠ»ΡΠ½ΠΎΠΉ ΡΠ΅ΠΏΠΈ ΠΏΡΠΈ ΡΠ΅Π°ΠΊΡΠΈΠΈ Ρ ΡΡΠΈΠ»ΠΎΠΊΡΠΈΠ°ΠΌΠΈΠ½ΠΎΠΌ ΠΎΠ±ΡΠ°Π·ΠΎΠ²ΡΠ²Π°Π»ΠΈ ΠΏΡΠΎΠΈΠ·Π²ΠΎΠ΄Π½ΡΠ΅ ΠΊΠ°ΠΊ ΠΏΠΎ Π°ΡΠΈΠ»ΡΠ½ΠΎΠΉ ΠΊΠ΅ΡΠΎΠ³ΡΡΠΏΠΏΠ΅, ΡΠ°ΠΊ ΠΈ ΠΊΠ°ΡΠ±ΠΎΠ½ΠΈΠ»ΡΠ½ΠΎΠΉ Π³ΡΡΠΏΠΏΠ΅ ΡΠΈΠΊΠ»Π°
Π Π΅Π°ΠΊΡΠΈΡ ΡΡΠ°Π»ΠΈΠΌΠΈΠ΄ΡΠΎΠ΄Π΅ΡΠΆΠ°ΡΠΈΡ 2-Π°ΡΠΈΠ»ΡΠΈΠΊΠ»ΠΎΠ³Π΅ΠΊΡΠ°Π½-1,3-Π΄ΠΈΠΎΠ½ΠΎΠ²Ρ Π±ΠΈΡΡΠ½ΠΊΡΠΈΠΎΠ½Π°Π»ΡΠ½ΡΠΌΠΈ Π½ΡΠΊΠ»Π΅ΠΎΡΠΈΠ»Π°ΠΌΠΈ
A number of new tetrahydrobenzoisoxazole or tetrahydroindazole substituted isoindolindiones has been synthesized by the reaction of cyclohexane Ξ²-triketones containing phthalimidoyl group in an acyl chain, with hydroxylamine, hydrazine and phenylhydrazine.ΠΠ·Π°ΠΈΠΌΠΎΠ΄Π΅ΠΉΡΡΠ²ΠΈΠ΅ΠΌ ΡΠΈΠΊΠ»ΠΎΠ³Π΅ΠΊΡΠ°Π½ΠΎΠ²ΡΡ
Ξ²-ΡΡΠΈΠΊΠ΅ΡΠΎΠ½ΠΎΠ², ΡΠΎΠ΄Π΅ΡΠΆΠ°ΡΠΈΡ
ΡΡΠ°Π»ΠΈΠΌΠΈΠ΄Π½ΡΠΉ Π·Π°ΠΌΠ΅ΡΡΠΈΡΠ΅Π»Ρ Π² Π°ΡΠΈΠ»ΡΠ½ΠΎΠΉ ΡΠ΅ΠΏΠΈ, Ρ Π³ΠΈΠ΄ΡΠΎΠΊΡΠΈΠ»Π°ΠΌΠΈΠ½ΠΎΠΌ, Π³ΠΈΠ΄ΡΠ°Π·ΠΈΠ½ΠΎΠΌ ΠΈ ΡΠ΅Π½ΠΈΠ»Π³ΠΈΠ΄ΡΠ°Π·ΠΈΠ½ΠΎΠΌ ΠΏΠΎΠ»ΡΡΠ΅Π½ ΡΡΠ΄ Π½ΠΎΠ²ΡΡ
ΠΈΠ·ΠΎΠΈΠ½Π΄ΠΎΠ»ΠΈΠ½Π΄ΠΈΠΎΠ½ΠΎΠ²ΡΡ
ΠΏΡΠΎΠΈΠ·Π²ΠΎΠ΄Π½ΡΡ
, ΡΠΎΠ΄Π΅ΡΠΆΠ°ΡΠΈΡ
ΡΠ΅ΡΡΠ°Π³ΠΈΠ΄ΡΠΎΠ±Π΅Π½Π·ΠΈΠ·ΠΎΠΊΡΠ°Π·ΠΎΠ»ΡΠ½ΡΠΉ ΠΈΠ»ΠΈ ΡΠ΅ΡΡΠ°Π³ΠΈΠ΄ΡΠΎΠΈΠ½Π΄Π°Π·ΠΎΠ»ΠΎΠ½ΠΎΠ²ΡΠΉ Π·Π°ΠΌΠ΅ΡΡΠΈΡΠ΅Π»Ρ
Π‘ΠΠΠ’ΠΠ ΠΠ ΠΠΠΠΠΠΠΠ«Π₯ 5-ΠΠΠΠΠΠΠΠΠ£ΠΠΠΠΠΠΠ ΠΠΠ‘ΠΠΠ’Π« Π‘ Π¦ΠΠΠΠΠΠΠΠ‘ΠΠΠΠΠ«ΠΠ Ξ²-ΠΠ- Π Ξ²-Π’Π ΠΠΠΠ’ΠΠΠΠΠ
A number of new methods for modification of carboxyl, carbonyl, amino groups of 5-aminolevulinic acid using Ξ²-di-andΒ Ξ²-tricarbonil cyclohexane compounds, aimed to increase their lipophilicity, have been proposed. The obtained compounds areΒ perspective as substanses for research in the field of photodynamic diagnostics and therapy of cancer.ΠΡΠ΅Π΄Π»ΠΎΠΆΠ΅Π½ ΡΡΠ΄ Π½ΠΎΠ²ΡΡ
ΠΌΠ΅ΡΠΎΠ΄ΠΎΠ² ΠΌΠΎΠ΄ΠΈΡΠΈΠΊΠ°ΡΠΈΠΈ ΠΊΠ°ΡΠ±ΠΎΠΊΡΠΈΠ»ΡΠ½ΠΎΠΉ, ΠΊΠ°ΡΠ±ΠΎΠ½ΠΈΠ»ΡΠ½ΠΎΠΉ ΠΈ Π°ΠΌΠΈΠ½ΠΎΠ³ΡΡΠΏΠΏΡ 5-Π°ΠΌΠΈΠ½ΠΎΠ»Π΅Π²ΡΠ»ΠΈΠ½ΠΎΠ²ΠΎΠΉΒ ΠΊΠΈΡΠ»ΠΎΡΡ Ρ ΠΈΡΠΏΠΎΠ»ΡΠ·ΠΎΠ²Π°Π½ΠΈΠ΅ΠΌ Ξ²-Π΄ΠΈ- ΠΈ Ξ² ΡΡΠΈΠΊΠ°ΡΠ±ΠΎΠ½ΠΈΠ»ΡΠ½ΡΡ
Β ΡΠΎΠ΅Π΄ΠΈΠ½Π΅Π½ΠΈΠΉ ΡΠΈΠΊΠ»ΠΎΠ³Π΅ΠΊΡΠ°Π½ΠΎΠ²ΠΎΠ³ΠΎ ΡΡΠ΄Π° Ρ ΡΠ΅Π»ΡΡ ΠΏΠΎΠ²ΡΡΠ΅Π½ΠΈΡ Π΅Π΅ Π»ΠΈΠΏΠΎΡΠΈΠ»ΡΠ½ΡΡ
ΡΠ²ΠΎΠΉΡΡΠ². ΠΠΎΠ»ΡΡΠ΅Π½Π½ΡΠ΅ ΡΠΎΠ΅Π΄ΠΈΠ½Π΅Π½ΠΈΡ ΠΏΠ΅ΡΡΠΏΠ΅ΠΊΡΠΈΠ²Π½Ρ Π΄Π»Ρ ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΡ Π² ΠΎΠ±Π»Π°ΡΡΠΈ ΡΠΎΡΠΎΠ΄ΠΈΠ½Π°ΠΌΠΈΡΠ΅ΡΠΊΠΎΠΉ Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΠΊΠΈΒ ΠΈ ΡΠ΅ΡΠ°ΠΏΠΈΠΈ ΡΠ°ΠΊΠΎΠ²ΡΡ
Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΠΉ
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases
Genetic screening is an advanced tool for reducing recessive disease burden. Nowadays, it is still unclear as to the number of genes or their variants that are necessary for effective screening. This paper describes the development of a carrier screening custom panel for cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss consisting of 116 variants in the CFTR, PAH, SERPINA1, and GJB2 genes. The approach is based on the cheapest and fastest method, on using a small number of genes, and on the estimation of the effectiveness of carriers’ detection. The custom panel was tested on a population-based cohort that included 1244 participants. Genotypes were determined by the TaqMan OpenArray Genotyping platform on the QuantStudio 12K Flex Real-Time PCR System. The frequency of heterozygotes in the Russian population was 16.87% or 1:6 (CI95%: 14.76–19.00% by Clopper-Pearson exact method): in CFTR—2.81% (1:36), PAH—2.33% (1:43), SERPINA1—4.90% (1:20), and GJB2—6.83% (1:15). The data on allele frequencies were obtained for the first time on a Russian population. The panel allows us to identify the vast majority of carriers of recessive diseases in the population. It is an effective approach to carrier screening for common recessive diseases