43 research outputs found
ΠΠΈΠ»ΠΊΠΎΠ²ΠΈΠΉ Π°Π½Π°Π»ΡΠ· Π²ΠΌΡΡΡΠΈΠΌΠΎΠ³ΠΎ ΡΠ΅ΠΊΡΡΠΌΡ ΠΌΠ΅Π΄ΠΎΠ½ΠΎΡΠ½ΠΈΡ Π±Π΄ΠΆΡΠ»
When consuming bees with honey and pollen, the necessary biologically active substances enter into the body. At the same time, in their rectum, during the period of the pituitary gland, a considerable mass of non-permeable remnants accumulate. The main part of them is pollen grains. Covering the issue of forage for wintering bees. Materials for laboratory studies were specimens of honey of different botanical origin, as well as containing rectum honey bees. The article analyzed the possibility of application in the diet of honey bees, except for honey, sugar syrup. Organoleptic evaluation of the main varieties of honey is given. It has been established that consumption of honey of different botanical origin by bees leads to an increase in fecal load during the period of hypobiosis up to 32.0% (P Λ 0.001). Studies have shown that when consuming sugar syrup in the rectum, isolated pollen grains were detected. With this method of forage can improve the course of physiological processes in the winter. Untreated pollen grains of different honey plants were detected in honey from experimental groups when using honey. However, the dominant number was the grain of honey, which consumed bees in a bleak period. Detailed analysis of the morphological structure of pollen grains isolated from the contents of the rectum of bees during the consumption of such honey: robinium common (acacia), linden small-leaf, rape, sunflower, buckwheat. In 1 g of natural honey contains about 3000 (varies from 60 to 28000) pollen grains of plants, usually 20 species. The largest number of pollen grains is found in buckwheat (about 5β6 thousand in 1 g) of honey, the least in acacia and lime (about 15β20 pcs in 1 g). The pollen grains of entomophilic plants are usually large, sticky, have a pronounced form. The morphological description of pollen grains is carried out at an increase of 1350 times, and measurements β 400 times. To calculate the amount of pollen grains a drop of honey solution is placed on the camera glass Goryaev. The following groups of pollen grains sizes are determined, depending on the length of the axis: very fine pollen grains are 10 microns, small ones are 11β25 microns, medium ones are 26β50 microns, large ones are 51β100 microns, and very large ones are 101β200 microns.Π£ ΡΡΠ°ΡΡΡ ΠΏΡΠΎΠ°Π½Π°Π»ΡΠ·ΠΎΠ²Π°Π½ΠΎ ΠΌΠΎΠΆΠ»ΠΈΠ²ΡΡΡΡ Π·Π°ΡΡΠΎΡΡΠ²Π°Π½Π½Ρ Π² ΡΠ°ΡΡΠΎΠ½Ρ ΠΌΠ΅Π΄ΠΎΠ½ΠΎΡΠ½ΠΈΡ
Π±Π΄ΠΆΡΠ», ΠΊΡΡΠΌ ΠΌΠ΅Π΄Ρ, ΡΡΠΊΡΠΎΠ²ΠΎΠ³ΠΎ ΡΠΈΡΠΎΠΏΡ. ΠΠΎΠ΄Π°Π½ΠΎ ΠΎΡΠ³Π°Π½ΠΎΠ»Π΅ΠΏΡΠΈΡΠ½Ρ ΠΎΡΡΠ½ΠΊΡ ΠΎΡΠ½ΠΎΠ²Π½ΠΈΡ
ΡΠΎΡΡΡΠ² ΠΌΠ΅Π΄Ρ. ΠΡΡΠ°Π½ΠΎΠ²Π»Π΅Π½ΠΎ, ΡΠΎ ΡΠΏΠΎΠΆΠΈΠ²Π°Π½Π½Ρ Π±Π΄ΠΆΠΎΠ»Π°ΠΌΠΈ ΠΌΠ΅Π΄Ρ ΡΡΠ·Π½ΠΎΠ³ΠΎ Π±ΠΎΡΠ°Π½ΡΡΠ½ΠΎΠ³ΠΎ ΠΏΠΎΡ
ΠΎΠ΄ΠΆΠ΅Π½Π½Ρ ΠΏΡΠΈΠ·Π²ΠΎΠ΄ΠΈΡΡ Π΄ΠΎ Π·Π±ΡΠ»ΡΡΠ΅Π½Π½Ρ ΠΊΠ°Π»ΠΎΠ²ΠΎΠ³ΠΎ Π½Π°Π²Π°Π½ΡΠ°ΠΆΠ΅Π½Π½Ρ ΠΏΡΠΎΡΡΠ³ΠΎΠΌ ΠΏΠ΅ΡΡΠΎΠ΄Ρ Π³ΡΠΏΠΎΠ±ΡΠΎΠ·Ρ Π΄ΠΎ 32,0% (Π Λ 0,001). ΠΠΎΡΠ»ΡΠ΄ΠΆΠ΅Π½Π½ΡΠΌΠΈ Π΄ΠΎΠ²Π΅Π΄Π΅Π½ΠΎ, ΡΠΎ ΠΏΡΠΈ ΡΠΏΠΎΠΆΠΈΠ²Π°Π½Π½Ρ ΡΡΠΊΡΠΎΠ²ΠΎΠ³ΠΎ ΡΠΈΡΠΎΠΏΡ Ρ ΡΠ΅ΠΊΡΡΠΌΡ Π²ΠΈΡΠ²Π»Π΅Π½ΠΎ ΠΏΠΎΠΎΠ΄ΠΈΠ½ΠΎΠΊΡ ΠΏΠΈΠ»ΠΊΠΎΠ²Ρ Π·Π΅ΡΠ½Π°. ΠΡΠΈ ΡΠ°ΠΊΠΎΠΌΡ ΡΠΏΠΎΡΠΎΠ±Ρ ΠΊΠΎΡΠΌΠΎΠ·Π°Π±Π΅Π·ΠΏΠ΅ΡΠ΅Π½Π½Ρ ΠΌΠΎΠΆΠ½Π° ΠΏΠΎΠΊΡΠ°ΡΠΈΡΠΈ ΠΏΠ΅ΡΠ΅Π±ΡΠ³ ΡΡΠ·ΡΠΎΠ»ΠΎΠ³ΡΡΠ½ΠΈΡ
ΠΏΡΠΎΡΠ΅ΡΡΠ² Π²Π·ΠΈΠΌΠΊΡ. Π£ Π±Π΄ΠΆΡΠ» Π΄ΠΎΡΠ»ΡΠ΄Π½ΠΈΡ
Π³ΡΡΠΏ ΠΏΡΠΈ Π²ΠΈΠΊΠΎΡΠΈΡΡΠ°Π½Π½Ρ ΠΌΠ΅Π΄Ρ Π²ΠΈΡΠ²Π»Π΅Π½ΠΎ Π½Π΅ΠΏΠ΅ΡΠ΅ΡΡΠ°Π²Π»Π΅Π½Ρ ΠΏΠΈΠ»ΠΊΠΎΠ²Ρ Π·Π΅ΡΠ½Π° ΡΡΠ·Π½ΠΈΡ
ΠΌΠ΅Π΄ΠΎΠ½ΠΎΡΠ½ΠΈΡ
ΡΠΎΡΠ»ΠΈΠ½. ΠΡΠΎΡΠ΅ Π΄ΠΎΠΌΡΠ½Π°Π½ΡΠ½Ρ ΠΊΡΠ»ΡΠΊΡΡΡΡ ΡΡΠ°Π½ΠΎΠ²ΠΈΠ»ΠΈ Π·Π΅ΡΠ½Π° ΠΌΠ΅Π΄ΡΠ², ΡΠΊΡ ΡΠΏΠΎΠΆΠΈΠ²Π°Π»ΠΈ Π±Π΄ΠΆΠΎΠ»ΠΈ Π² Π±Π΅Π·ΠΎΠ±Π»ΡΠΎΡΠ½ΠΈΠΉ ΠΏΠ΅ΡΡΠΎΠ΄. ΠΠ΅ΡΠ°Π»ΡΠ½ΠΎ ΠΏΡΠΎΠ°Π½Π°Π»ΡΠ·ΠΎΠ²Π°Π½ΠΎ ΠΌΠΎΡΡΠΎΠ»ΠΎΠ³ΡΡΠ½Ρ Π±ΡΠ΄ΠΎΠ²Ρ ΠΏΠΈΠ»ΠΊΠΎΠ²ΠΈΡ
Π·Π΅ΡΠ΅Π½, Π²ΠΈΠ΄ΡΠ»Π΅Π½ΠΈΡ
Π· Π²ΠΌΡΡΡΠΈΠΌΠΎΠ³ΠΎ ΠΏΡΡΠΌΠΎΡ ΠΊΠΈΡΠΊΠΈ Π±Π΄ΠΆΡΠ» ΠΏΡΠΈ ΡΠΏΠΎΠΆΠΈΠ²Π°Π½Π½Ρ ΡΠ°ΠΊΠΈΡ
ΠΌΠ΅Π΄ΡΠ²: ΡΠΎΠ±ΡΠ½ΡΡ Π·Π²ΠΈΡΠ°ΠΉΠ½Π° (Π°ΠΊΠ°ΡΡΡ), Π»ΠΈΠΏΠ° Π΄ΡΡΠ±Π½ΠΎΠ»ΠΈΡΡΠ°, ΡΡΠΏΠ°ΠΊ, ΡΠΎΠ½ΡΡΠ½ΠΈΠΊ, Π³ΡΠ΅ΡΠΊΠ°. Π 1 Π³ Π½Π°ΡΡΡΠ°Π»ΡΠ½ΠΎΠ³ΠΎ ΠΌΠ΅Π΄Ρ ΠΌΡΡΡΠΈΡΡΡΡ Π±Π»ΠΈΠ·ΡΠΊΠΎ 3000 (ΠΊΠΎΠ»ΠΈΠ²Π°ΡΡΡΡΡ Π²ΡΠ΄ 60 Π΄ΠΎ 28000) ΠΏΠΈΠ»ΠΊΠΎΠ²ΠΈΡ
Π·Π΅ΡΠ΅Π½ ΡΠΎΡΠ»ΠΈΠ½, Π·Π°Π·Π²ΠΈΡΠ°ΠΉ 20 Π²ΠΈΠ΄ΡΠ². ΠΠ°ΠΉΠ±ΡΠ»ΡΡΠ° ΠΊΡΠ»ΡΠΊΡΡΡΡ ΠΏΠΈΠ»ΠΊΠΎΠ²ΠΈΡ
Π·Π΅ΡΠ΅Π½ ΠΌΡΡΡΠΈΡΡΡΡ Ρ Π³ΡΠ΅ΡΠ°Π½ΠΎΠΌΡ (Π±Π»ΠΈΠ·ΡΠΊΠΎ 5β6 ΡΠΈΡ. Ρ 1 Π³) ΠΌΠ΅Π΄Ρ, Π½Π°ΠΉΠΌΠ΅Π½ΡΠ΅ β Π² Π°ΠΊΠ°ΡΡΡΠ²ΠΎΠΌΡ Ρ Π»ΠΈΠΏΠΎΠ²ΠΎΠΌΡ (Π±Π»ΠΈΠ·ΡΠΊΠΎ 15β20 ΡΡ. Ρ 1 Π³)
ΠΠ»ΠΈΠ½ΠΈΠΊΠΎ-Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΠ΅ Ρ Π°ΡΠ°ΠΊΡΠ΅ΡΠΈΡΡΠΈΠΊΠΈ ΡΠΈΠ½Π΄ΡΠΎΠΌΠ° ΠΠΎΡβΠΡΠ½ΡΡΡΠ°βΠ¨Π°Π°ΡΠ°, ΠΎΠ±ΡΡΠ»ΠΎΠ²Π»Π΅Π½Π½ΠΎΠ³ΠΎ Π²Π½ΠΎΠ²Ρ Π²ΡΡΠ²Π»Π΅Π½Π½ΡΠΌΠΈ ΠΌΡΡΠ°ΡΠΈΡΠΌΠΈ Π² Π³Π΅Π½Π΅ NR2F1
BoschβBoonstraβSchaaf optic atrophy is autosomal dominant disorder caused by mutations in the NR2F1 gene. Its common features include optic atrophy and / or hypoplasia, developmental delay, intellectual disability, attention deficit disorder, autism spectrum disorder, seizures, hearing defects, spasticity, hypotonia, and thinning of the corpus callosum. We report of the clinical and genetic characteristics of two patients with Bosch-Boonstra-Schaaf syndrome with newly detected of the missense mutations Ρ.329T>C (p.Phe110Ser) and Ρ.413G>A (p.Cys138Tyr) in the gene NR2F1. The existence of a polymorphism of the clinical manifestations of the syndrome has been shown, and the necessity of using exome sequencing in the diagnosis of neuro-ophthalmic diseases has been substantiated.Π‘ΠΈΠ½Π΄ΡΠΎΠΌ ΠΠΎΡβΠΡΠ½ΡΡΡΠ°βΠ¨Π°Π°ΡΠ° β Π°ΡΡΠΎΡΠΎΠΌΠ½ΠΎ-Π΄ΠΎΠΌΠΈΠ½Π°Π½ΡΠ½ΠΎΠ΅ Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΠ΅, ΠΎΠ±ΡΡΠ»ΠΎΠ²Π»Π΅Π½Π½ΠΎΠ΅ ΠΌΡΡΠ°ΡΠΈΡΠΌΠΈ Π² Π³Π΅Π½Π΅ NR2F1. ΠΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΠ΅ ΠΏΡΠΎΡΠ²Π»Π΅Π½ΠΈΡ Ρ
Π°ΡΠ°ΠΊΡΠ΅ΡΠΈΠ·ΡΡΡΡΡ ΡΠΎΡΠ΅ΡΠ°Π½ΠΈΠ΅ΠΌ Π°ΡΡΠΎΡΠΈΠΈ ΠΈ / ΠΈΠ»ΠΈ Π³ΠΈΠΏΠΎΠΏΠ»Π°Π·ΠΈΠΈ Π·ΡΠΈΡΠ΅Π»ΡΠ½ΡΡ
Π½Π΅ΡΠ²ΠΎΠ², Π·Π°Π΄Π΅ΡΠΆΠΊΠΎΠΉ ΠΌΠΎΡΠΎΡΠ½ΠΎΠ³ΠΎ ΡΠ°Π·Π²ΠΈΡΠΈΡ, ΠΈΠ½ΡΠ΅Π»Π»Π΅ΠΊΡΡΠ°Π»ΡΠ½ΡΠΌ Π΄Π΅ΡΠΈΡΠΈΡΠΎΠΌ, ΡΡΠ΄ΠΎΡΠΎΠ³Π°ΠΌΠΈ, Π³ΠΈΠΏΠΎΡΠΎΠ½ΠΈΠ΅ΠΉ ΠΈ Π³ΠΈΠΏΠΎΠΏΠ»Π°Π·ΠΈΠ΅ΠΉ ΠΌΠΎΠ·ΠΎΠ»ΠΈΡΡΠΎΠ³ΠΎ ΡΠ΅Π»Π°. Π ΡΡΠ°ΡΡΠ΅ ΠΏΡΠ΅Π΄ΡΡΠ°Π²Π»Π΅Π½ΠΎ ΠΎΠΏΠΈΡΠ°Π½ΠΈΠ΅ ΠΊΠ»ΠΈΠ½ΠΈΠΊΠΎ-Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΡ
Ρ
Π°ΡΠ°ΠΊΡΠ΅ΡΠΈΡΡΠΈΠΊ 2 Π±ΠΎΠ»ΡΠ½ΡΡ
Ρ ΡΠΈΠ½Π΄ΡΠΎΠΌΠΎΠΌ ΠΠΎΡβΠΡΠ½ΡΡΡΠ°βΠ¨Π°Π°ΡΠ° Ρ Π²Π½ΠΎΠ²Ρ Π²ΡΡΠ²Π»Π΅Π½Π½ΡΠΌΠΈ ΠΌΠΈΡΡΠ΅Π½Ρ-ΠΌΡΡΠ°ΡΠΈΡΠΌΠΈ Ρ.329Π’>Π‘ (p.Phe110Ser) ΠΈ Ρ.413G>A (p.Cys138Tyr) Π² Π³Π΅Π½Π΅ NR2F1. ΠΠΎΠΊΠ°Π·Π°Π½ΠΎ ΡΡΡΠ΅ΡΡΠ²ΠΎΠ²Π°Π½ΠΈΠ΅ ΠΏΠΎΠ»ΠΈΠΌΠΎΡΡΠΈΠ·ΠΌΠ° ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΡ
ΠΏΡΠΎΡΠ²Π»Π΅Π½ΠΈΠΉ ΡΠΈΠ½Π΄ΡΠΎΠΌΠ° ΠΈ ΠΎΠ±ΠΎΡΠ½ΠΎΠ²Π°Π½Π° Π½Π΅ΠΎΠ±Ρ
ΠΎΠ΄ΠΈΠΌΠΎΡΡΡ ΠΈΡΠΏΠΎΠ»ΡΠ·ΠΎΠ²Π°Π½ΠΈΡ ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΡ ΡΠΊΠ·ΠΎΠΌΠ° Π² Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΠΊΠ΅ Π½Π΅ΠΉΡΠΎΠΎΡΡΠ°Π»ΡΠΌΠΎΠ»ΠΎΠ³ΠΈΡΠ΅ΡΠΊΠΈΡ
Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΠΉ
Π Π°Π·Π½ΠΎΠΎΠ±ΡΠ°Π·ΠΈΠ΅ ΡΠ΅Π½ΠΎΡΠΈΠΏΠΎΠ², ΡΠ²ΡΠ·Π°Π½Π½ΡΡ Ρ Π³Π΅Π½ΠΎΠΌ VCP: ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΎΠ΅ Π½Π°Π±Π»ΡΠ΄Π΅Π½ΠΈΠ΅ ΠΈ ΠΎΠ±Π·ΠΎΡ Π»ΠΈΡΠ΅ΡΠ°ΡΡΡΡ
Background. Gene VCP encoding multifunctional protein valosin produces a number of rare autosomal dominant late-onset disorders with multiple symptoms (muscular dystrophy with inclusion bodies in part of cases, Paget disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis and few others) in different combinations often varying in one family. Rare unusual phenotypes are difficult for recognition. Molecular methods facilitate diagnostics.Objective: to describe first Russian VCP-related familial case detected by exome sequencing and present a review on poorly known disorder.Materials and methods. In a Russian family with 4 patients in 2 generations 6 persons were examined: 2 patients, 3 clinically unaffected possible heterozygous carriers and patientβs mother with no genetic risk; medical information was received about two deceased patients. Methods: clinical and genealogical; biochemical: blood creatine kinase, alpha-glucosidase; molecular: clinical exome sequencing, Sanger familial sequencing, bioinformatical analysis.Results. In 48-year-old proband and 50-year-old brother whose former diagnosis was hereditary neuropathy proximal muscular dystrophy with onset in 43β45 years, rapid progression and moderately raised creatine kinase (341β572 U/l) was found out. Since 45 years the proband also had Paget disease. Both brothers had no evident dementia (neuropsychological examination was not performed). The younger brother since 32 years suffered typical amyotrophic lateral sclerosis, evidently combined with dementia, he died in 43 years being severely disabled; brain is not described in autopsy record. The father had rapidly progressing walking difficulties since 40 years without mental, speech or swallowing disturbances; he was never examined and died in 48 years of heart disease (?). Clinical exome sequencing in the proband detected in VCP exon 5 one of common mutations Ρ.463Π‘>T (p.Arg155Cys) in heterozygous state. Familial Sanger sequencing found out the mutation in him, in the brother and in clinically unaffected 36-year-old sister, 22-year-old daughter and 15-year old son, thus diagnosing preclinical stage of the disease.Conclusions. The case illustrates diversity of VCP-related disorders and necessity to take into consideration all phenotype spectrum. DNA-confirmed diagnosis permits genetic counseling.ΠΠ²Π΅Π΄Π΅Π½ΠΈΠ΅. ΠΠ΅Π½ VCP, ΠΊΠΎΠ΄ΠΈΡΡΡΡΠΈΠΉ ΠΌΠ½ΠΎΠ³ΠΎΡΡΠ½ΠΊΡΠΈΠΎΠ½Π°Π»ΡΠ½ΡΠΉ Π±Π΅Π»ΠΎΠΊ Π²Π°Π»ΠΎΠ·ΠΈΠ½, Π²ΡΠ·ΡΠ²Π°Π΅Ρ ΡΡΠ΄ ΡΠ΅Π΄ΠΊΠΈΡ
Π°ΡΡΠΎΡΠΎΠΌΠ½ΠΎ-Π΄ΠΎΠΌΠΈΠ½Π°Π½ΡΠ½ΡΡ
ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΡ
ΡΠΎΡΠΌ Ρ ΠΏΠΎΠ·Π΄Π½ΠΈΠΌ Π½Π°ΡΠ°Π»ΠΎΠΌ ΠΈ ΡΠ°Π·Π½ΠΎΠΎΠ±ΡΠ°Π·Π½ΡΠΌΠΈ ΡΠΈΠΌΠΏΡΠΎΠΌΠ°ΠΌΠΈ (ΠΌΡΡΠ΅ΡΠ½Π°Ρ Π΄ΠΈΡΡΡΠΎΡΠΈΡ, Π² ΡΠ°ΡΡΠΈ ΡΠ»ΡΡΠ°Π΅Π² Ρ Π²ΠΊΠ»ΡΡΠ΅Π½ΠΈΡΠΌΠΈ Π² ΠΌΡΡΡΠ°Ρ
; ΠΊΠΎΡΡΠ½Π°Ρ Π±ΠΎΠ»Π΅Π·Π½Ρ ΠΠ΅Π΄ΠΆΠ΅ΡΠ°; Π»ΠΎΠ±Π½ΠΎ-Π²ΠΈΡΠΎΡΠ½Π°Ρ Π΄Π΅ΠΌΠ΅Π½ΡΠΈΡ; Π±ΠΎΠΊΠΎΠ²ΠΎΠΉ Π°ΠΌΠΈΠΎΡΡΠΎΡΠΈΡΠ΅ΡΠΊΠΈΠΉ ΡΠΊΠ»Π΅ΡΠΎΠ·; Π±ΠΎΠ»Π΅Π΅ ΡΠ΅Π΄ΠΊΠΈΠ΅ ΡΠΈΠΌΠΏΡΠΎΠΌΡ), ΡΠΎΡΠ΅ΡΠ°Π½ΠΈΡ ΠΊΠΎΡΠΎΡΡΡ
Π²Π°ΡΡΠΈΡΡΡΡ, Π² ΡΠ°ΡΡΠ½ΠΎΡΡΠΈ, Π²Π½ΡΡΡΠΈΡΠ΅ΠΌΠ΅ΠΉΠ½ΠΎ. Π Π΅Π΄ΠΊΠΎΡΡΡ ΠΏΠ°ΡΠΎΠ»ΠΎΠ³ΠΈΠΈ ΠΈ Π½Π΅ΠΎΠ±ΡΡΠ½ΠΎΠ΅ ΡΠΎΡΠ΅ΡΠ°Π½ΠΈΠ΅ ΡΠΈΠΌΠΏΡΠΎΠΌΠΎΠ² Π·Π°ΡΡΡΠ΄Π½ΡΡΡ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΡΡ Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΠΊΡ. ΠΠΎΠ»Π΅ΠΊΡΠ»ΡΡΠ½ΠΎ-Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΠ΅ ΠΌΠ΅ΡΠΎΠ΄Ρ Π½Π΅ΠΎΠ±Ρ
ΠΎΠ΄ΠΈΠΌΡ Π΄Π»Ρ ΡΡΡΠ°Π½ΠΎΠ²Π»Π΅Π½ΠΈΡ Π΄ΠΈΠ°Π³Π½ΠΎΠ·Π°.Π¦Π΅Π»Ρ ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΡ β ΠΎΠΏΠΈΡΠ°ΡΡ ΠΏΠ΅ΡΠ²ΡΠΉ ΡΠΎΡΡΠΈΠΉΡΠΊΠΈΠΉ ΡΠ΅ΠΌΠ΅ΠΉΠ½ΡΠΉ ΡΠ»ΡΡΠ°ΠΉ VCP-ΡΠ²ΡΠ·Π°Π½Π½ΠΎΠΉ ΠΏΠ°ΡΠΎΠ»ΠΎΠ³ΠΈΠΈ, Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΡΠΎΠ²Π°Π½Π½ΡΠΉ ΠΌΠ΅ΡΠΎΠ΄ΠΎΠΌ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΡΠΊΠ·ΠΎΠΌΠ½ΠΎΠ³ΠΎ ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΡ, ΠΏΡΠ΅Π΄ΡΡΠ°Π²ΠΈΡΡ ΠΎΠ±Π·ΠΎΡ Π»ΠΈΡΠ΅ΡΠ°ΡΡΡΡ ΠΎ ΠΌΠ°Π»ΠΎΠΈΠ·Π²Π΅ΡΡΠ½ΠΎΠΉ Π±ΠΎΠ»Π΅Π·Π½ΠΈ.ΠΠ°ΡΠ΅ΡΠΈΠ°Π»Ρ ΠΈ ΠΌΠ΅ΡΠΎΠ΄Ρ. Π ΡΡΡΡΠΊΠΎΠΉ ΡΠ΅ΠΌΡΠ΅ Ρ 4 Π±ΠΎΠ»ΡΠ½ΡΠΌΠΈ Π² 2 ΠΏΠΎΠΊΠΎΠ»Π΅Π½ΠΈΡΡ
ΠΎΠ±ΡΠ»Π΅Π΄ΠΎΠ²Π°Π½Ρ 2 Π±ΠΎΠ»ΡΠ½ΡΡ
, 3 ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈ Π·Π΄ΠΎΡΠΎΠ²ΡΡ
Π²ΠΎΠ·ΠΌΠΎΠΆΠ½ΡΡ
Π³Π΅ΡΠ΅ΡΠΎΠ·ΠΈΠ³ΠΎΡΠ½ΡΡ
Π½ΠΎΡΠΈΡΠ΅Π»Π΅ΠΉ ΠΈ ΠΌΠ°ΡΡ Π±ΠΎΠ»ΡΠ½ΡΡ
, Π½Π΅ ΠΈΠΌΠ΅ΡΡΠ°Ρ ΡΠΈΡΠΊΠ° Π½ΠΎΡΠΈΡΠ΅Π»ΡΡΡΠ²Π°; ΠΏΠΎΠ»ΡΡΠ΅Π½Ρ ΡΠ²Π΅Π΄Π΅Π½ΠΈΡ ΠΎ 2 ΡΠΌΠ΅ΡΡΠΈΡ
Π±ΠΎΠ»ΡΠ½ΡΡ
. ΠΠ΅ΡΠΎΠ΄Ρ: ΠΊΠ»ΠΈΠ½ΠΈΠΊΠΎ-Π³Π΅Π½Π΅Π°Π»ΠΎΠ³ΠΈΡΠ΅ΡΠΊΠΈΠΉ; Π±ΠΈΠΎΡ
ΠΈΠΌΠΈΡΠ΅ΡΠΊΠΈΠ΅: ΠΎΠΏΡΠ΅Π΄Π΅Π»Π΅Π½ΠΈΠ΅ ΠΊΡΠ΅Π°ΡΠΈΠ½ΡΠΎΡΡΠΎΠΊΠΈΠ½Π°Π·Ρ ΠΈ Π°Π»ΡΡΠ°-Π³Π»ΡΠΊΠΎΠ·ΠΈΠ΄Π°Π·Ρ Π² ΠΊΡΠΎΠ²ΠΈ; ΠΌΠΎΠ»Π΅ΠΊΡΠ»ΡΡΠ½ΠΎ-Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΠ΅: ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΎΠ΅ ΡΠΊΠ·ΠΎΠΌΠ½ΠΎΠ΅ ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΠ΅, ΡΠ΅ΠΌΠ΅ΠΉΠ½Π°Ρ Π²Π΅ΡΠΈΡΠΈΠΊΠ°ΡΠΈΡ ΠΏΠΎ Π‘ΡΠ½Π³Π΅ΡΡ, Π±ΠΈΠΎΠΈΠ½ΡΠΎΡΠΌΠ°ΡΠΈΡΠ΅ΡΠΊΠΈΠΉ Π°Π½Π°Π»ΠΈΠ·.Π Π΅Π·ΡΠ»ΡΡΠ°ΡΡ. Π£ ΠΏΡΠΎΠ±Π°Π½Π΄Π° 48 Π»Π΅Ρ ΠΈ Π΅Π³ΠΎ Π±ΡΠ°ΡΠ° 50 Π»Π΅Ρ Ρ ΠΏΡΠ΅ΠΆΠ½ΠΈΠΌ Π΄ΠΈΠ°Π³Π½ΠΎΠ·ΠΎΠΌ Π½Π°ΡΠ»Π΅Π΄ΡΡΠ²Π΅Π½Π½ΠΎΠΉ Π½Π΅ΠΉΡΠΎΠΏΠ°ΡΠΈΠΈ Π²ΡΡΠ²Π»Π΅Π½Π° ΠΏΡΠΎΠΊΡΠΈΠΌΠ°Π»ΡΠ½Π°Ρ ΠΌΡΡΠ΅ΡΠ½Π°Ρ Π΄ΠΈΡΡΡΠΎΡΠΈΡ Ρ Π½Π°ΡΠ°Π»ΠΎΠΌ Π² 43β45 Π»Π΅Ρ, Π±ΡΡΡΡΡΠΌ ΠΏΡΠΎΠ³ΡΠ΅ΡΡΠΈΡΠΎΠ²Π°Π½ΠΈΠ΅ΠΌ ΠΈ ΡΠΌΠ΅ΡΠ΅Π½Π½ΠΎ ΠΏΠΎΠ²ΡΡΠ΅Π½Π½ΡΠΌ ΡΡΠΎΠ²Π½Π΅ΠΌ ΠΊΡΠ΅Π°ΡΠΈΠ½ΡΠΎΡΡΠΎΠΊΠΈΠ½Π°Π·Ρ (341β572 ΠΠ΄/Π»). Π£ ΠΏΡΠΎΠ±Π°Π½Π΄Π° Ρ 45 Π»Π΅Ρ Π±ΠΎΠ»Π΅Π·Π½Ρ ΠΠ΅Π΄ΠΆΠ΅ΡΠ°; Π±ΡΠ°Ρ Π² ΡΡΠΎΠΌ ΠΏΠ»Π°Π½Π΅ Π½Π΅ ΠΎΠ±ΡΠ»Π΅Π΄ΠΎΠ²Π°Π½, ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΡ
ΡΠΈΠΌΠΏΡΠΎΠΌΠΎΠ² Π½Π΅Ρ. Π£ ΠΎΠ±ΠΎΠΈΡ
Π½Π΅Ρ ΡΠ²Π½ΠΎΠΉ Π΄Π΅ΠΌΠ΅Π½ΡΠΈΠΈ (ΡΠΏΠ΅ΡΠΈΠ°Π»ΡΠ½ΠΎΠ΅ ΠΎΠ±ΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΠ΅ Π½Π΅ ΠΏΡΠΎΠ²ΠΎΠ΄ΠΈΠ»ΠΈ). Π’ΡΠ΅ΡΠΈΠΉ Π±ΡΠ°Ρ Ρ 32 Π»Π΅Ρ ΡΡΡΠ°Π΄Π°Π» ΡΠΈΠΏΠΈΡΠ½ΡΠΌ Π±ΠΎΠΊΠΎΠ²ΡΠΌ Π°ΠΌΠΈΠΎΡΡΠΎΡΠΈΡΠ΅ΡΠΊΠΈΠΌ ΡΠΊΠ»Π΅ΡΠΎΠ·ΠΎΠΌ, ΠΎΡΠ΅Π²ΠΈΠ΄Π½ΠΎ, Π² ΡΠΎΡΠ΅ΡΠ°Π½ΠΈΠΈ Ρ Π΄Π΅ΠΌΠ΅Π½ΡΠΈΠ΅ΠΉ; ΡΠΌΠ΅Ρ Π² 43 Π³ΠΎΠ΄Π°, Π³ΠΎΠ»ΠΎΠ²Π½ΠΎΠΉ ΠΌΠΎΠ·Π³ Π² ΠΏΡΠΎΡΠΎΠΊΠΎΠ»Π΅ Π°ΡΡΠΎΠΏΡΠΈΠΈ Π½Π΅ ΠΎΠΏΠΈΡΠ°Π½. ΠΡΠ΅Ρ Ρ 40 Π»Π΅Ρ Ρ ΡΡΡΠ΄ΠΎΠΌ Ρ
ΠΎΠ΄ΠΈΠ», Ρ 43 Π»Π΅Ρ Ρ ΠΎΠΏΠΎΡΠΎΠΉ; ΠΈΠ½ΡΠ΅Π»Π»Π΅ΠΊΡ, ΡΠ΅ΡΡ, Π³Π»ΠΎΡΠ°Π½ΠΈΠ΅ Π½Π΅ ΡΡΡΠ°Π΄Π°Π»ΠΈ; Π½Π΅ ΠΎΠ±ΡΠ»Π΅Π΄ΠΎΠ²Π°Π½: ΡΠΌΠ΅Ρ Π² 48 Π»Π΅Ρ (Π±ΠΎΠ»Π΅Π·Π½Ρ ΡΠ΅ΡΠ΄ΡΠ°?). ΠΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΎΠ΅ ΡΠΊΠ·ΠΎΠΌΠ½ΠΎΠ΅ ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΠ΅ Ρ ΠΏΡΠΎΠ±Π°Π½Π΄Π° Π²ΡΡΠ²ΠΈΠ»ΠΎ Π² ΡΠΊΠ·ΠΎΠ½Π΅ 5 Π³Π΅Π½Π° VCP ΡΠ°ΡΡΡΡ ΠΌΡΡΠ°ΡΠΈΡ Ρ.463Π‘>T (p.Arg155Cys) Π² Π³Π΅ΡΠ΅ΡΠΎΠ·ΠΈΠ³ΠΎΡΠ½ΠΎΠΌ ΡΠΎΡΡΠΎΡΠ½ΠΈΠΈ. ΠΡΠΈ ΡΠ΅ΠΌΠ΅ΠΉΠ½ΠΎΠΌ ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΠΈ ΠΏΠΎ Π‘ΡΠ½Π³Π΅ΡΡ ΠΌΡΡΠ°ΡΠΈΡ Π½Π°ΠΉΠ΄Π΅Π½Π° Ρ ΠΏΡΠΎΠ±Π°Π½Π΄Π° ΠΈ Π±ΡΠ°ΡΠ°, Π° ΡΠ°ΠΊΠΆΠ΅ Ρ Π·Π΄ΠΎΡΠΎΠ²ΡΡ
ΡΠ΅ΡΡΡΡ 36 Π»Π΅Ρ, Π΄ΠΎΡΠ΅ΡΠΈ 22 Π»Π΅Ρ ΠΈ ΡΡΠ½Π° 15 Π»Π΅Ρ (Π΄ΠΎΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠ°Ρ ΡΡΠ°Π΄ΠΈΡ Π±ΠΎΠ»Π΅Π·Π½ΠΈ).ΠΡΠ²ΠΎΠ΄Ρ. ΠΠ°Π±Π»ΡΠ΄Π΅Π½ΠΈΠ΅ ΠΈΠ»Π»ΡΡΡΡΠΈΡΡΠ΅Ρ ΠΌΠ½ΠΎΠ³ΠΎΠΎΠ±ΡΠ°Π·ΠΈΠ΅ VCP-ΡΠ²ΡΠ·Π°Π½Π½ΠΎΠΉ ΠΏΠ°ΡΠΎΠ»ΠΎΠ³ΠΈΠΈ ΠΈ Π²Π°ΠΆΠ½ΠΎΡΡΡ ΡΡΠ΅ΡΠ° Π² ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΎΠΉ Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΠΊΠ΅ Π²ΡΠ΅Π³ΠΎ ΡΠΏΠ΅ΠΊΡΡΠ° ΡΠ΅Π½ΠΎΡΠΈΠΏΠΎΠ². Π£ΡΡΠ°Π½ΠΎΠ²Π»Π΅Π½Π½ΡΠΉ Π΄ΠΈΠ°Π³Π½ΠΎΠ· ΠΏΠΎΠ·Π²ΠΎΠ»ΡΠ΅Ρ ΠΏΡΠΎΠ²ΠΎΠ΄ΠΈΡΡ ΠΌΠ΅Π΄ΠΈΠΊΠΎ-Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠ΅ ΠΊΠΎΠ½ΡΡΠ»ΡΡΠΈΡΠΎΠ²Π°Π½ΠΈΠ΅ Π² ΡΠ΅ΠΌΡΡΡ
ΠΠ»ΠΈΠ½ΠΈΠΊΠΎ-Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΠ΅ Ρ Π°ΡΠ°ΠΊΡΠ΅ΡΠΈΡΡΠΈΠΊΠΈ Π΄ΠΈΡΡΠ°Π»ΡΠ½ΡΡ Π°ΡΡΡΠΎΠ³ΡΠΈΠΏΠΎΠ·ΠΎΠ², ΠΎΠ±ΡΡΠ»ΠΎΠ²Π»Π΅Π½Π½ΡΡ ΠΌΡΡΠ°ΡΠΈΡΠΌΠΈ Π² Π³Π΅Π½Π΅ PIEZO2
Mutations in the PIEZO2 gene, which is involved in the formation of the mechanosensitive cation channel Piezo2, can cause distal arthrogryposis type 3 (Gordonβs syndrome), type 5, and MardenβWalker syndrome. Clinical and genetic characteristics of two patients with distal arthrogryposis with autosomal dominant inheritance and one with autosomal recessive inheritance are presented. Exome sequencing in one case revealed a de novo mutation in exon 52 of the PIEZO2gene c.8238G>A (p.Trp2746*, NM_022068.3), in the second, a known deletion of three nucleotides in exon 52 of the PIEZO2 gene c.8181_8183delAGA (p Glu2727del, NM_022068.3) was found, in the third, two mutations in the compound heterozygous state β a deletion of four nucleotides leading to a shift in the reading frame in c.1863_1866delTCAG(p.Ser621fs, NM_022068) and a deletion with putative coordinates 10785050β10789339 bp, spanning 15β16 exons of the PIEZO2 gene (NM_022068; LOD 2.40). The third patient was found to have two newly detected mutations in the compound heterozygous state β a deletion of four nucleotides, leading to a shift in the reading frame in exon 14, p.1863_1866delTCAG (p.Ser621fs, NM_022068) and a deletion with assumed coordinates 10785050β10789339 b. o., (NM_022068; LOD 2.40), spanning 15β16 exons of the PIEZO2 gene. The previous assumption was confirmed that heterozygous mutations are more often localized in exon 52 of the PIEZO2 gene and disrupt the amino acid sequence of the Cβterminal region of the protein molecule, while in patients with an autosomal recessive mode of inheritance of the mutation, the Nβterminal region is more often found.ΠΡΡΠ°ΡΠΈΠΈ Π² Π³Π΅Π½Π΅ PIEZO2, ΡΡΠ°ΡΡΠ²ΡΡΡΠ΅ΠΌ Π² ΡΠΎΡΠΌΠΈΡΠΎΠ²Π°Π½ΠΈΠΈ ΠΌΠ΅Ρ
Π°Π½ΠΎΡΡΠ²ΡΡΠ²ΠΈΡΠ΅Π»ΡΠ½ΠΎΠ³ΠΎ ΠΊΠ°ΡΠΈΠΎΠ½Π½ΠΎΠ³ΠΎ ΠΊΠ°Π½Π°Π»Π°, ΠΎΠ±ΡΡΠ»ΠΎΠ²Π»ΠΈΠ²Π°ΡΡ Π²ΠΎΠ·Π½ΠΈΠΊΠ½ΠΎΠ²Π΅Π½ΠΈΠ΅ Π΄ΠΈΡΡΠ°Π»ΡΠ½ΡΡ
Π°ΡΡΡΠΎΠ³ΡΠΈΠΏΠΎΠ·ΠΎΠ² (ΠΠ) 3βΠ³ΠΎ ΠΈ 5βΠ³ΠΎ ΡΠΈΠΏΠΎΠ² ΠΈ ΡΠΈΠ½Π΄ΡΠΎΠΌΠ° ΠΠ°ΡΠ΄Π΅Π½Π°βΠ£ΠΎΠΊΠ΅ΡΠ°, Π½Π°ΡΠ»Π΅Π΄ΡΡΡΠΈΡ
ΡΡ Π°ΡΡΠΎΡΠΎΠΌΠ½ΠΎβΠ΄ΠΎΠΌΠΈΠ½Π°Π½ΡΠ½ΠΎ, ΠΈ Π°ΡΡΠΎΡΠΎΠΌΠ½ΠΎβΡΠ΅ΡΠ΅ΡΡΠΈΠ²Π½ΠΎΠ³ΠΎ ΠΠ Ρ Π½Π°ΡΡΡΠ΅Π½ΠΈΠ΅ΠΌ ΡΠ°ΠΊΡΠΈΠ»ΡΠ½ΠΎΠΉ ΠΈ ΠΏΡΠΎΠΏΡΠΈΠΎΡΠ΅ΠΏΡΠΈΠ²Π½ΠΎΠΉ ΡΡΠ²ΡΡΠ²ΠΈΡΠ΅Π»ΡΠ½ΠΎΡΡΠΈ. ΠΡΠ΅Π΄ΡΡΠ°Π²Π»Π΅Π½Ρ ΠΊΠ»ΠΈΠ½ΠΈΠΊΠΎβΠ³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΠ΅ Ρ
Π°ΡΠ°ΠΊΡΠ΅ΡΠΈΡΡΠΈΠΊΠΈ 2 ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ Π°ΡΡΠΎΡΠΎΠΌΠ½ΠΎβΠ΄ΠΎΠΌΠΈΠ½Π°Π½ΡΠ½ΡΠΌ ΠΠ ΠΈ 1 ΠΏΠ°ΡΠΈΠ΅Π½ΡΠ° Ρ Π°ΡΡΠΎΡΠΎΠΌΠ½ΠΎβΡΠ΅ΡΠ΅ΡΡΠΈΠ²Π½ΡΠΌ ΠΠ. Π ΡΠ΅Π·ΡΠ»ΡΡΠ°ΡΠ΅ ΠΏΡΠΎΠ²Π΅Π΄Π΅Π½ΠΈΡ ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΡ ΡΠΊΠ·ΠΎΠΌΠ° Ρ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ Π°ΡΡΠΎΡΠΎΠΌΠ½ΠΎβΠ΄ΠΎΠΌΠΈΠ½Π°Π½ΡΠ½ΡΠΌ ΠΠ ΠΎΠ±Π½Π°ΡΡΠΆΠ΅Π½Ρ Π²Π½ΠΎΠ²Ρ Π²ΡΡΠ²Π»Π΅Π½Π½Π°Ρ Π½ΡΠΊΠ»Π΅ΠΎΡΠΈΠ΄Π½Π°Ρ Π·Π°ΠΌΠ΅Π½Π° c. 8238G>A (p.Trp2746*,NM_022068.3) ΠΈ ΡΠ°Π½Π΅Π΅ ΠΎΠΏΠΈΡΠ°Π½Π½Π°Ρ ΠΌΡΡΠ°ΡΠΈΡ Ρ. 8181_8183delAGA (p.Glu2727del, NM_022068.3) Π² 52βΠΌ ΡΠΊΠ·ΠΎΠ½Π΅ Π³Π΅Π½Π° PIEZO2. Π£ 3βΠ³ΠΎ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠ° ΠΎΠ±Π½Π°ΡΡΠΆΠ΅Π½Ρ 2 Π²Π½ΠΎΠ²Ρ Π²ΡΡΠ²Π»Π΅Π½Π½ΡΠ΅ ΠΌΡΡΠ°ΡΠΈΠΈ Π² ΠΊΠΎΠΌΠΏΠ°ΡΠ½Π΄βΠ³Π΅ΡΠ΅ΡΠΎΠ·ΠΈΠ³ΠΎΡΠ½ΠΎΠΌ ΡΠΎΡΡΠΎΡΠ½ΠΈΠΈ: Π΄Π΅Π»Π΅ΡΠΈΡ 4 Π½ΡΠΊΠ»Π΅ΠΎΡΠΈΠ΄ΠΎΠ², ΠΏΡΠΈΠ²ΠΎΠ΄ΡΡΠ°Ρ ΠΊ ΡΠ΄Π²ΠΈΠ³Ρ ΡΠ°ΠΌΠΊΠΈ ΡΡΠΈΡΡΠ²Π°Π½ΠΈΡ Π² 14βΠΌ ΡΠΊΠ·ΠΎΠ½Π΅, Ρ.1863_1866delTCAG (p.Ser621fs, NM_022068) ΠΈ Π΄Π΅Π»Π΅ΡΠΈΡ Ρ ΠΏΡΠ΅Π΄ΠΏΠΎΠ»Π°Π³Π°Π΅ΠΌΡΠΌΠΈ ΠΊΠΎΠΎΡΠ΄ΠΈΠ½Π°ΡΠ°ΠΌΠΈ 10785050β10789339 ΠΏ. ΠΎ. (NM_022068; LOD 2.40), Π·Π°Ρ
Π²Π°ΡΡΠ²Π°ΡΡΠ°Ρ 15β16βΠΉ ΡΠΊΠ·ΠΎΠ½Ρ Π³Π΅Π½Π° PIEZO2. ΠΠΎΠ΄ΡΠ²Π΅ΡΠΆΠ΄Π΅Π½ΠΎ ΠΏΡΠ΅Π΄ΠΏΠΎΠ»ΠΎΠΆΠ΅Π½ΠΈΠ΅ ΠΎ ΡΠΎΠΌ, ΡΡΠΎ Π³Π΅ΡΠ΅ΡΠΎΠ·ΠΈΠ³ΠΎΡΠ½ΡΠ΅ ΠΌΡΡΠ°ΡΠΈΠΈ ΡΠ°ΡΠ΅ Π»ΠΎΠΊΠ°Π»ΠΈΠ·ΡΡΡΡΡ Π² 52βΠΌ ΡΠΊΠ·ΠΎΠ½Π΅ Π³Π΅Π½Π° PIEZO2 ΠΈ Π½Π°ΡΡΡΠ°ΡΡ Π°ΠΌΠΈΠ½ΠΎΠΊΠΈΡΠ»ΠΎΡΠ½ΡΡ ΠΏΠΎΡΠ»Π΅Π΄ΠΎΠ²Π°ΡΠ΅Π»ΡΠ½ΠΎΡΡΡ Π‘βΠΊΠΎΠ½ΡΠ΅Π²ΠΎΠ³ΠΎ ΡΡΠ°ΡΡΠΊΠ° Π±Π΅Π»ΠΊΠΎΠ²ΠΎΠΉ ΠΌΠΎΠ»Π΅ΠΊΡΠ»Ρ, Π² ΡΠΎ Π²ΡΠ΅ΠΌΡ ΠΊΠ°ΠΊ Ρ Π±ΠΎΠ»ΡΠ½ΡΡ
Ρ Π°ΡΡΠΎΡΠΎΠΌΠ½ΠΎβΡΠ΅ΡΠ΅ΡΡΠΈΠ²Π½ΡΠΌ ΡΠΈΠΏΠΎΠΌ Π½Π°ΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΡ ΠΌΡΡΠ°ΡΠΈΠΈ ΡΠ°ΡΠ΅ ΠΎΠ±Π½Π°ΡΡΠΆΠΈΠ²Π°ΡΡΡΡ ΠΎΠ±Π»Π°ΡΡΠΈ NβΠΊΠΎΠ½ΡΠ΅Π²ΠΎΠ³ΠΎ ΠΈΠ»ΠΈ ΡΠ΅Π½ΡΡΠ°Π»ΡΠ½ΠΎΠ³ΠΎ ΡΡΠ°ΡΡΠΊΠ°
Π‘ΠΏΠΈΠ½Π°Π»ΡΠ½Π°Ρ ΠΈ Π±ΡΠ»ΡΠ±Π°ΡΠ½Π°Ρ ΠΌΡΡΠ΅ΡΠ½Π°Ρ Π°ΡΡΠΎΡΠΈΡ Ρ ΠΏΡΠ΅Π²Π΄ΠΎΠΌΠΈΠΎΡΠΎΠ½ΠΈΡΠ΅ΡΠΊΠΈΠΌ ΡΠ΅Π½ΠΎΠΌΠ΅Π½ΠΎΠΌ: ΠΎΠΏΠΈΡΠ°Π½ΠΈΠ΅ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΡΠ»ΡΡΠ°Ρ
A clinical description of a 28-year-old man with spinal and bulbar muscular atrophy diagnosed on the basis of the CAG-trinucleotide expansion in the gene coding androgen receptor is presented. He exhibited skeletal muscles and tongue fasciculations, gynecomastia, increased serum testosterone and creatine kinase levels. The peculiarities of the case were the gynecomastia under the age of 7, development of fasciculations at the age of 11 and appearance of hard muscle stiffness with delayed muscle relaxation after voluntary contraction at the age of 15, which resembled typical myotonia. Electromyography showed few signs of mild without myotonic discharge, contrasting with giant motor unit potentials and reduced recruitment. The cause of myotonia-like symptom without myotonic discharge as a feature of skeletal muscles disorder is discussed with the modern view of spinal and bulbar muscular atrophy as a multisystem genetic pathology.ΠΡΠ΅Π΄ΡΡΠ°Π²Π»Π΅Π½ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΠΉ ΡΠ»ΡΡΠ°ΠΉ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠ° 28 Π»Π΅Ρ ΡΠΎ ΡΠΏΠΈΠ½Π°Π»ΡΠ½ΠΎΠΉ ΠΈ Π±ΡΠ»ΡΠ±Π°ΡΠ½ΠΎΠΉ ΠΌΡΡΠ΅ΡΠ½ΠΎΠΉ Π°ΠΌΠΈΠΎΡΡΠΎΡΠΈΠ΅ΠΉ, Π΄ΠΎΠΊΠ°Π·Π°Π½Π½ΠΎΠΉ ΡΠ²Π΅Π»ΠΈΡΠ΅Π½ΠΈΠ΅ΠΌ CAG-ΠΏΠΎΠ²ΡΠΎΡΠΎΠ² Π² Π³Π΅Π½Π΅, ΠΊΠΎΠ΄ΠΈΡΡΡΡΠ΅ΠΌ Π°Π½Π΄ΡΠΎΠ³Π΅Π½Π½ΡΠΉ ΡΠ΅ΡΠ΅ΠΏΡΠΎΡ. Π£ Π½Π΅Π³ΠΎ Π½Π°Π±Π»ΡΠ΄Π°Π»ΠΈΡΡ ΡΠ°ΡΡΠΈΠΊΡΠ»ΡΡΠΈΠΈ Π² ΡΠΊΠ΅Π»Π΅ΡΠ½ΡΡ
ΠΌΡΡΡΠ°Ρ
ΠΈ ΡΠ·ΡΠΊΠ΅, Π³ΠΈΠ½Π΅ΠΊΠΎΠΌΠ°ΡΡΠΈΡ, ΠΏΠΎΠ²ΡΡΠ΅Π½ΠΈΠ΅ Π² ΡΡΠ²ΠΎΡΠΎΡΠΊΠ΅ ΡΡΠΎΠ²Π½Π΅ΠΉ ΡΠ΅ΡΡΠΎΡΡΠ΅ΡΠΎΠ½Π° ΠΈ ΠΊΡΠ΅Π°ΡΠΈΠ½ΠΊΠΈΠ½Π°Π·Ρ. ΠΡΠΎΠ±Π΅Π½Π½ΠΎΡΡΡΡ ΡΠ»ΡΡΠ°Ρ ΡΠ²Π»ΡΠ΅ΡΡΡ ΡΠ°Π·Π²ΠΈΡΠΈΠ΅ Π³ΠΈΠ½Π΅ΠΊΠΎΠΌΠ°ΡΡΠΈΠΈ Π² Π²ΠΎΠ·ΡΠ°ΡΡΠ΅ Π΄ΠΎ 7 Π»Π΅Ρ, ΠΏΠΎΡΠ²Π»Π΅Π½ΠΈΠ΅ ΡΠ°ΡΡΠΈΠΊΡΠ»ΡΡΠΈΠΉ Π² Π²ΠΎΠ·ΡΠ°ΡΡΠ΅ 11 Π»Π΅Ρ ΠΈ ΠΏΡΠΎΠ΄ΠΎΠ»ΠΆΠΈΡΠ΅Π»ΡΠ½ΡΡ
ΠΌΡΡΠ΅ΡΠ½ΡΡ
ΡΡΠ΄ΠΎΡΠΎΠ³ Ρ Π·Π°Π΄Π΅ΡΠΆΠΊΠΎΠΉ ΡΠ°ΡΡΠ»Π°Π±Π»Π΅Π½ΠΈΡ Π² 15 Π»Π΅Ρ, ΠΊΠΎΡΠΎΡΡΠ΅ Π½Π°ΠΏΠΎΠΌΠΈΠ½Π°Π»ΠΈ ΡΠΈΠΏΠΈΡΠ½ΡΡ ΠΌΠΈΠΎΡΠΎΠ½ΠΈΡ. ΠΠ»Π΅ΠΊΡΡΠΎΠΌΠΈΠΎΠ³ΡΠ°ΡΠΈΡ Π²ΡΡΠ²ΠΈΠ»Π° ΠΏΡΠΈΠ·Π½Π°ΠΊΠΈ ΡΠΌΠ΅ΡΠ΅Π½Π½ΠΎΠΉ Π΄Π΅Π½Π΅ΡΠ²Π°ΡΠΈΠΈ Π±Π΅Π· ΠΌΠΈΠΎΡΠΎΠ½ΠΈΡΠ΅ΡΠΊΠΈΡ
ΡΠ°Π·ΡΡΠ΄ΠΎΠ² Π½Π°ΡΡΠ΄Ρ Ρ Π³ΠΈΠ³Π°Π½ΡΡΠΊΠΈΠΌΠΈ ΠΏΠΎΡΠ΅Π½ΡΠΈΠ°Π»Π°ΠΌΠΈ Π΄Π²ΠΈΠ³Π°ΡΠ΅Π»ΡΠ½ΡΡ
Π΅Π΄ΠΈΠ½ΠΈΡ ΠΈ ΡΠ½ΠΈΠΆΠ΅Π½ΠΈΠ΅ΠΌ ΠΏΠ°ΡΡΠ΅ΡΠ½Π° ΡΠ΅ΠΊΡΡΡΠΈΡΠΎΠ²Π°Π½ΠΈΡ. ΠΠ±ΡΡΠΆΠ΄Π°ΡΡΡΡ Π²ΠΎΠ·ΠΌΠΎΠΆΠ½ΡΠ΅ ΠΌΠ΅Ρ
Π°Π½ΠΈΠ·ΠΌΡ ΠΌΠΈΠΎΡΠΎΠ½ΠΈΠΈ ΠΈ Π·Π°Π΄Π΅ΡΠΆΠΊΠΈ ΠΌΡΡΠ΅ΡΠ½ΠΎΠ³ΠΎ ΡΠ°ΡΡΠ»Π°Π±Π»Π΅Π½ΠΈΡ ΠΊΠ°ΠΊ ΠΏΡΠΈΠ·Π½Π°ΠΊΠΎΠ² Π½Π°ΡΡΡΠ΅Π½ΠΈΡ ΡΡΠ½ΠΊΡΠΈΠΈ ΡΠΊΠ΅Π»Π΅ΡΠ½ΡΡ
ΠΌΡΡΡ Π² ΡΠ²Π΅ΡΠ΅ ΡΠΎΠ²ΡΠ΅ΠΌΠ΅Π½Π½ΡΡ
ΠΏΡΠ΅Π΄ΡΡΠ°Π²Π»Π΅Π½ΠΈΠΉ ΠΎ ΡΠΏΠΈΠ½Π°Π»ΡΠ½ΠΎΠΉ ΠΈ Π±ΡΠ»ΡΠ±Π°ΡΠ½ΠΎΠΉ ΠΌΡΡΠ΅ΡΠ½ΠΎΠΉ Π°ΡΡΠΎΡΠΈΠΈ ΠΊΠ°ΠΊ ΠΌΡΠ»ΡΡΠΈΡΠΈΡΡΠ΅ΠΌΠ½ΠΎΠΉ Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠΉ ΠΏΠ°ΡΠΎΠ»ΠΎΠ³ΠΈΠΈ
ΠΡΠΈΠΌΠ΅Π½Π΅Π½ΠΈΠ΅ ΡΠΊΠ·ΠΎΠΌΠ½ΠΎΠ³ΠΎ ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΡ Π΄Π»Ρ Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΠΊΠΈ Π½Π°ΡΠ»Π΅Π΄ΡΡΠ²Π΅Π½Π½ΡΡ ΠΌΠΎΡΠΎΡΠ½ΠΎ-ΡΠ΅Π½ΡΠΎΡΠ½ΡΡ Π½Π΅ΠΉΡΠΎΠΏΠ°ΡΠΈΠΉ
Introduction. Hereditary motor and sensory neuropathies, a highly genetic heterogeneous group of disorders, have a phenotype caused by peripheral nerve damage.Purpose of the study β to assess the extent of genetic heterogeneity of hereditary motor and sensory neuropathies in Russian patients and to evaluate the diagnostic effectiveness of using full-exome research methods to find the genetic cause of hereditary motor and sensory neuropathies.Materials and methods. The material for the study was DNA samples from 51 patients and their family members referred for whole exome sequencing to the DNA-diagnostics laboratory of Research Centre for Medical Genetics in 2017β2019. Methods: whole exome sequencing, Sanger sequencing, restriction fragment length polymorphism.Results. Whole exome sequencing in combination with segregation analysis of the pathogenic variants in families allowed to determine the cause of the disease in 41 % of cases. In another 16 % of cases, candidate genetic variants as a possible cause of the disease were revealed, but additional studies are needed to confirm it. The most frequently mutated gene was MFN2 caused neuropathy in 6 unrelated families. MPZ gene mutations were detected in two families, AARS gene mutations were revealed in another two families, and mutations in GJB1, HINT1, INF2, LRSAM1, LITAF, MME, NEFL, WWOX were detected once. Among the causal variants, mutations in B4GALNT1 caused spastic paraplegia, in COL6A1 led to Bethlemβs congenital muscular dystrophy, and in SYT2 caused congenital myasthenic syndrome indicating difficulties in differential diagnosis of inherited neuromuscular disorders. A PMP22 duplication was detected in 2 families prior to whole exome sequencing.Conclusion. Whole exome sequencing is very important for finding the molecular cause of hereditary motor and sensory neuropathies. In most cases, additional methods should be used to clarify the pathogenicity of variants detected by whole exome sequencing. However, it is necessary to remember that the most common cause of the disease is a large duplication of the region 17p11.2.ΠΠ²Π΅Π΄Π΅Π½ΠΈΠ΅. ΠΠ°ΡΠ»Π΅Π΄ΡΡΠ²Π΅Π½Π½ΡΠ΅ ΠΌΠΎΡΠΎΡΠ½ΠΎ-ΡΠ΅Π½ΡΠΎΡΠ½ΡΠ΅ Π½Π΅ΠΉΡΠΎΠΏΠ°ΡΠΈΠΈ β ΠΎΠ±ΡΠΈΡΠ½Π°Ρ Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈ-Π³Π΅ΡΠ΅ΡΠΎΠ³Π΅Π½Π½Π°Ρ Π³ΡΡΠΏΠΏΠ° Π½Π°ΡΠ»Π΅Π΄ΡΡΠ²Π΅Π½Π½ΡΡ
Π±ΠΎΠ»Π΅Π·Π½Π΅ΠΉ, ΠΏΡΠΈ ΠΊΠΎΡΠΎΡΡΡ
ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΠΉ ΡΠ΅Π½ΠΎΡΠΈΠΏ ΠΎΠ±ΡΡΠ»ΠΎΠ²Π»Π΅Π½ ΡΠ΅ΠΌ ΠΈΠ»ΠΈ ΠΈΠ½ΡΠΌ ΠΏΠΎΡΠ°ΠΆΠ΅Π½ΠΈΠ΅ΠΌ ΠΏΠ΅ΡΠΈΡΠ΅ΡΠΈΡΠ΅ΡΠΊΠΈΡ
Π½Π΅ΡΠ²ΠΎΠ².Π¦Π΅Π»Ρ ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΡ β ΠΎΡΠ΅Π½ΠΈΡΡ ΡΠ°Π·ΠΌΠ°Ρ
Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠΉ Π³Π΅ΡΠ΅ΡΠΎΠ³Π΅Π½Π½ΠΎΡΡΠΈ Π½Π°ΡΠ»Π΅Π΄ΡΡΠ²Π΅Π½Π½ΡΡ
ΠΌΠΎΡΠΎΡΠ½ΠΎ-ΡΠ΅Π½ΡΠΎΡΠ½ΡΡ
Π½Π΅ΠΉΡΠΎΠΏΠ°ΡΠΈΠΉ Ρ ΡΠΎΡΡΠΈΠΉΡΠΊΠΈΡ
Π±ΠΎΠ»ΡΠ½ΡΡ
ΠΈ Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΡΠ΅ΡΠΊΡΡ ΡΡΡΠ΅ΠΊΡΠΈΠ²Π½ΠΎΡΡΡ ΠΈΡΠΏΠΎΠ»ΡΠ·ΠΎΠ²Π°Π½ΠΈΡ ΠΏΠΎΠ»Π½ΠΎΡΠΊΠ·ΠΎΠΌΠ½ΡΡ
ΠΌΠ΅ΡΠΎΠ΄ΠΎΠ² ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΡ Π΄Π»Ρ ΠΏΠΎΠΈΡΠΊΠ° Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠΉ ΠΏΡΠΈΡΠΈΠ½Ρ Π½Π°ΡΠ»Π΅Π΄ΡΡΠ²Π΅Π½Π½ΡΡ
ΠΌΠΎΡΠΎΡΠ½ΠΎ-ΡΠ΅Π½ΡΠΎΡΠ½ΡΡ
Π½Π΅ΠΉΡΠΎΠΏΠ°ΡΠΈΠΉ.ΠΠ°ΡΠ΅ΡΠΈΠ°Π»Ρ ΠΈ ΠΌΠ΅ΡΠΎΠ΄Ρ. ΠΠ°ΡΠ΅ΡΠΈΠ°Π»ΠΎΠΌ Π΄Π»Ρ ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΡ ΠΏΠΎΡΠ»ΡΠΆΠΈΠ»ΠΈ ΠΎΠ±ΡΠ°Π·ΡΡ ΠΠΠ 51 Π±ΠΎΠ»ΡΠ½ΠΎΠ³ΠΎ ΠΈ ΡΠ»Π΅Π½ΠΎΠ² ΠΈΡ
ΡΠ΅ΠΌΠ΅ΠΉ, ΠΎΠ±ΡΠ°ΡΠΈΠ²ΡΠΈΡ
ΡΡ Π·Π° ΡΠΊΠ·ΠΎΠΌΠ½ΡΠΌ ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΠ΅ΠΌ Π² Π»Π°Π±ΠΎΡΠ°ΡΠΎΡΠΈΡ ΠΠΠ-Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΠΊΠΈ Π€ΠΠΠΠ£ Β«ΠΠ΅Π΄ΠΈΠΊΠΎ-Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΠΉ Π½Π°ΡΡΠ½ΡΠΉ ΡΠ΅Π½ΡΡ ΠΈΠΌ. Π°ΠΊΠ°Π΄Π΅ΠΌΠΈΠΊΠ° Π. Π. ΠΠΎΡΠΊΠΎΠ²Π°Β» Π² 2017β2019 Π³Π³. ΠΠ΅ΡΠΎΠ΄Ρ: ΠΏΠΎΠ»Π½ΠΎΡΠΊΠ·ΠΎΠΌΠ½ΠΎΠ΅ ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΠ΅, ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΠ΅ ΠΏΠΎ Π‘Π΅Π½Π³Π΅ΡΡ, ΠΌΠ΅ΡΠΎΠ΄ Π°Π½Π°Π»ΠΈΠ·Π° ΠΏΠΎΠ»ΠΈΠΌΠΎΡΡΠΈΠ·ΠΌΠ° Π΄Π»ΠΈΠ½ Π°ΠΌΠΏΠ»ΠΈΡΠΈΠΊΠ°ΡΠΈΠΎΠ½Π½ΡΡ
ΡΡΠ°Π³ΠΌΠ΅Π½ΡΠΎΠ².Π Π΅Π·ΡΠ»ΡΡΠ°ΡΡ. ΠΡΠΏΠΎΠ»ΡΠ·ΡΡ ΡΠΊΠ·ΠΎΠΌΠ½ΠΎΠ΅ ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΠ΅ Π² ΡΠΎΡΠ΅ΡΠ°Π½ΠΈΠΈ Ρ Π°Π½Π°Π»ΠΈΠ·ΠΎΠΌ ΡΠ΅Π³ΡΠ΅Π³Π°ΡΠΈΠΈ ΠΏΠ°ΡΠΎΠ³Π΅Π½Π½ΡΡ
Π²Π°ΡΠΈΠ°Π½ΡΠΎΠ², ΡΠ΄Π°Π»ΠΎΡΡ ΡΡΡΠ°Π½ΠΎΠ²ΠΈΡΡ ΠΏΡΠΈΡΠΈΠ½Ρ Π±ΠΎΠ»Π΅Π·Π½ΠΈ Π² ΡΠ΅ΠΌΡΡΡ
Ρ 41 % ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ². ΠΡΠ΅ Ρ 16 % Π²ΡΡΠ²Π»Π΅Π½Ρ ΠΊΠ°Π½Π΄ΠΈΠ΄Π°ΡΠ½ΡΠ΅ Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΠ΅ Π²Π°ΡΠΈΠ°Π½ΡΡ, ΡΠ²Π»ΡΡΡΠΈΠ΅ΡΡ Π²ΠΎΠ·ΠΌΠΎΠΆΠ½ΠΎΠΉ ΠΏΡΠΈΡΠΈΠ½ΠΎΠΉ Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΡ, ΠΎΠ΄Π½Π°ΠΊΠΎ Π΄Π»Ρ ΠΏΠΎΠ΄ΡΠ²Π΅ΡΠΆΠ΄Π΅Π½ΠΈΡ ΡΡΠΎΠ³ΠΎ Π½Π΅ΠΎΠ±Ρ
ΠΎΠ΄ΠΈΠΌΡ Π΄ΠΎΠΏΠΎΠ»Π½ΠΈΡΠ΅Π»ΡΠ½ΡΠ΅ ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΡ, ΠΊΠΎΡΠΎΡΡΠ΅ ΠΏΠΎ ΡΠ΅ΡΠ΅Π½ΠΈΡ ΡΠ΅ΠΌΠ΅ΠΉ Π½Π΅ Π±ΡΠ»ΠΈ ΠΏΡΠΎΠ²Π΅Π΄Π΅Π½Ρ. ΠΠ°ΠΈΠ±ΠΎΠ»Π΅Π΅ ΡΠ°ΡΡΠΎ (Π² 6 Π½Π΅ΡΠΎΠ΄ΡΡΠ²Π΅Π½Π½ΡΡ
ΡΠ΅ΠΌΡΡΡ
) Π²ΡΡΠ²Π»Π΅Π½Ρ ΠΌΡΡΠ°ΡΠΈΠΈ Π³Π΅Π½Π° MFN2, Π² 2 ΡΠ΅ΠΌΡΡΡ
β Π³Π΅Π½Π° MPZ, Π² 2 β AARS, ΠΏΠΎ 1 ΡΠ»ΡΡΠ°Ρ β GJB1, HINT1, INF2, LRSAM1, LITAF, MME, NEFL, WWOX. Π‘ΡΠ΅Π΄ΠΈ ΠΏΡΠΈΡΠΈΠ½Π½ΡΡ
Π²Π°ΡΠΈΠ°Π½ΡΠΎΠ² Π±ΡΠ»ΠΈ Π²ΡΡΠ²Π»Π΅Π½Ρ ΠΌΡΡΠ°ΡΠΈΠΈ Π³Π΅Π½ΠΎΠ², ΠΎΡΠ²Π΅ΡΠ°ΡΡΠΈΡ
Π·Π° ΡΠΏΠ°ΡΡΠΈΡΠ΅ΡΠΊΡΡ ΠΏΠ°ΡΠ°ΠΏΠ»Π΅Π³ΠΈΡ (B4GALNT1), Π²ΡΠΎΠΆΠ΄Π΅Π½Π½ΡΡ ΠΌΡΡΠ΅ΡΠ½ΡΡ Π΄ΠΈΡΡΡΠΎΡΠΈΡ ΠΠ΅ΡΠ»Π΅ΠΌΠ° (COL6A1), ΠΌΠΈΠ°ΡΡΠ΅Π½ΠΈΡ (SYT2), ΡΡΠΎ ΡΠ²ΠΈΠ΄Π΅ΡΠ΅Π»ΡΡΡΠ²ΡΠ΅Ρ ΠΎ ΡΡΡΠ΄Π½ΠΎΡΡΡΡ
Π΄ΠΈΡΡΠ΅ΡΠ΅Π½ΡΠΈΠ°Π»ΡΠ½ΠΎΠΉ Π΄ΠΈΠ°Π³Π½ΠΎΡΡΠΈΠΊΠΈ Π½Π°ΡΠ»Π΅Π΄ΡΡΠ²Π΅Π½Π½ΡΡ
Π½Π΅ΡΠ²Π½ΠΎ-ΠΌΡΡΠ΅ΡΠ½ΡΡ
Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΠΉ. Π 2 ΡΠ΅ΠΌΡΡΡ
Π΄ΠΎ ΠΏΡΠΎΠ²Π΅Π΄Π΅Π½ΠΈΡ ΠΏΠΎΠ»Π½ΠΎΡΠΊΠ·ΠΎΠΌΠ½ΠΎΠ³ΠΎ ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΡ (WES) Π±ΡΠ»Π° Π΄Π΅ΡΠ΅ΠΊΡΠΈΡΠΎΠ²Π°Π½Π° Π΄ΡΠΏΠ»ΠΈΠΊΠ°ΡΠΈΡ Π½Π° Ρ
ΡΠΎΠΌΠΎΡΠΎΠΌΠ΅ 17.ΠΡΠ²ΠΎΠ΄Ρ. ΠΠΊΠ·ΠΎΠΌΠ½ΡΠ΅ ΠΌΠ΅ΡΠΎΠ΄Ρ ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΡ ΠΎΡΠ΅Π½Ρ Π²Π°ΠΆΠ½Ρ Π΄Π»Ρ ΠΏΠΎΠΈΡΠΊΠ° ΠΌΠΎΠ»Π΅ΠΊΡΠ»ΡΡΠ½ΠΎΠΉ ΠΏΡΠΈΡΠΈΠ½Ρ Π½Π°ΡΠ»Π΅Π΄ΡΡΠ²Π΅Π½Π½ΠΎΠΉ ΠΌΠΎΡΠΎΡΠ½ΠΎ-ΡΠ΅Π½ΡΠΎΡΠ½ΠΎΠΉ Π½Π΅ΠΉΡΠΎΠΏΠ°ΡΠΈΠΈ. ΠΠ»Ρ ΡΡΠΎΡΠ½Π΅Π½ΠΈΡ ΠΏΠ°ΡΠΎΠ³Π΅Π½Π½ΠΎΡΡΠΈ Π²Π°ΡΠΈΠ°Π½ΡΠΎΠ², Π²ΡΡΠ²Π»Π΅Π½Π½ΡΡ
ΠΏΡΠΈ ΡΠΊΠ·ΠΎΠΌΠ½ΠΎΠΌ ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΠΈ, Π² Π±ΠΎΠ»ΡΡΠΈΠ½ΡΡΠ²Π΅ ΡΠ»ΡΡΠ°Π΅Π² Π½Π΅ΠΎΠ±Ρ
ΠΎΠ΄ΠΈΠΌΠΎ ΠΈΡΠΏΠΎΠ»ΡΠ·ΠΎΠ²Π°ΡΡ Π΄ΠΎΠΏΠΎΠ»Π½ΠΈΡΠ΅Π»ΡΠ½ΡΠ΅ ΠΌΠ΅ΡΠΎΠ΄Ρ. ΠΠ΄Π½Π°ΠΊΠΎ, Π½Π΅ΡΠΌΠΎΡΡΡ Π½Π° ΠΈΡ
Π²ΡΡΠΎΠΊΡΡ ΠΈΠ½ΡΠΎΡΠΌΠ°ΡΠΈΠ²Π½ΠΎΡΡΡ, ΡΠ»Π΅Π΄ΡΠ΅Ρ ΠΏΠΎΠΌΠ½ΠΈΡΡ, ΡΡΠΎ Π½Π°ΠΈΠ±ΠΎΠ»Π΅Π΅ ΡΠ°ΡΡΠΎΠΉ ΠΏΡΠΈΡΠΈΠ½ΠΎΠΉ Π±ΠΎΠ»Π΅Π·Π½ΠΈ ΡΠ²Π»ΡΠ΅ΡΡΡ ΠΊΡΡΠΏΠ½Π°Ρ Π΄ΡΠΏΠ»ΠΈΠΊΠ°ΡΠΈΡ ΡΠ΅Π³ΠΈΠΎΠ½Π° 17p11.2
Modern Trends of Organic Chemistry in Russian Universities
Β© 2018, Pleiades Publishing, Ltd. This review is devoted to the scientific achievements of the departments of organic chemistry in higher schools of Russia within the past decade