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The nuclear two-photon or double-gamma (2γ) decay is a second-order electromagnetic process whereby a nucleus in an excited state emits two gamma rays simultaneously. To be able to directly measure the 2γ decay rate in the low-energy regime below the electron-positron pair-creation threshold, we combined the isochronous mode of a storage ring with Schottky resonant cavities. The newly developed technique can be applied to isomers with excitation energies down to â¼100 keV and half-lives as short as â¼10 ms. The half-life for the 2γ decay of the first-excited 0^{+} state in bare ^{72}Ge ions was determined to be 23.9(6) ms, which strongly deviates from expectations.
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The excitation energy of the 1/2^{-} isomer in ^{99}In at N=50 is measured to be 671(37) keV and the mass uncertainty of the 9/2^{+} ground state is significantly reduced using the ISOLTRAP mass spectrometer at ISOLDE/CERN. The measurements exploit a major improvement in the resolution of the multireflection time-of-flight mass spectrometer. The results reveal an intriguing constancy of the 1/2^{-} isomer excitation energies in neutron-deficient indium that persists down to the N=50 shell closure, even when all neutrons are removed from the valence shell. This trend is used to test large-scale shell model, ab initio, and density functional theory calculations. The models have difficulties describing both the isomer excitation energies and ground-state electromagnetic moments along the indium chain.
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BACKGROUND: The concern of the global community of gynecologists and obstetricians (FIGO) regarding the increase in the number of caesarean sections has resulted in the creation of a new classification, Placenta Accreta Spectrum (PAS), which presents degrees of villus invasion into the uterine wall. OBJECTIVE: Compare the main types of atypical placentation (AP) with the stages of PAS, to supplement and unify the clinical and morphological criteria AP. MATERIAL AND METHODS: Surgical material was examined from 73 women after metroplasty (n=61) and hysterectomies (n=12) from the regions of Russia, Moscow and the Moscow region for ingrown villi and from 10 women with a typical placenta location during the first cesarean section. A targeted cutting of material from the uteroplacental region was used, at least 10-12 pieces, with further H&E and Mallory staining. RESULTS: In the classification of AP, the terms «placenta accreta¼, «increta¼, «percreta¼ should be retained. It is necessary to single out pl. previa as a separate type. Attention is focused on the need to assess the depth of villi invasion accompanied by a layer of fibrinoid, the volume of scar tissue and the degree of disorganization of the myometrial bundles, the state of the vessels in the serous membrane. A new type of AP has been proposed - a sharp thinning of the lower segment of the uterus, due to the scar failure and the pressure of the growing amniotic sac, leading to atrophy and necrosis of the myometrium. CONCLUSION: An integrated approach should be used to classify atypical placentation, taking into account not only the depth of villus invasion, but also anatomical and pathogenic factors in order to develop targeted methods of surgical treatment.
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Placenta Accreta , Placentación , Embarazo , Femenino , Humanos , Placentación/genética , Cesárea , Cicatriz/patología , Útero/patología , Placenta/patología , Placenta Accreta/patología , Estudios Retrospectivos , Ultrasonografía PrenatalRESUMEN
In recent years, raspberry breeding has shifted its emphasis from agronomic performance to characteristics related to the sensory qualities of the fruit and its potential health benef its. The therapeutic and preventive properties of raspberries are related to their biochemical composition. In this regard, the purpose of the work was to determine the content of macro- and micronutrients in fruits of different cultivars of repair raspberry using modern high-tech analytical methods and the selection of genetic sources of the analyzed elements for further breeding. The objects of the research were 17 cultivars of repair raspberry of different ecological and geographical origin from the genetic plant bioresource collection of FSBSO ARHCBAN. It was found that the ash residue of berries contains 12 major elements, which form the following descending series: K > P > Mg ≥ Mo > Ca > S ≥ Ni > Zn > Mn > Se > Fe ≥ Co. The largest proportion of ash residue in raspberry fruits is K. Depending on the cultivar, its quantity averaged from 12.81 wt % (Samorodok and Karamelka) to 22.37 wt % (Atlant). The minimum K content was observed in the ash of the Carolina cultivar (5.62 wt %), while in berries of this cultivar Mg (2.91), Ca (2.62) and Zn (0.14 wt %) accumulated above average. Among the group of early maturing cultivars, the cultivar Yubileinaya Kulikova stands out with a high content of Mo (4.63), Ca (2.19), Fe (0.25) and Co (0.21 wt %). The cultivar Pingvin is characterized by a high content of K (22.65) and Se (0.31 wt %). The medium maturity cultivar Samorodok is characterized by a higher content of P (4.08), S (0.47), Ni (0.51) and Zn (0.26 wt %). Among the late maturing cultivars, the cultivar Poranna Rosa stands out with the preferential accumulation of nine elements: Mg (2.98), P (4.42), S (0.36), K (20.34), Ca (1.71), Mn (0.14), Co (0.13), Se (0.21) and Mo (3.08 wt %). Correlation relationships between the elements have been established. Samples with the highest accumulation of macro- and microelements in berries represent genetic sources for further selection of raspberry for improvement of the mineral composition of fruits.
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It is possible to achieve the target indices of the Russian Doctrine of Food Security (self-sufficiency in fruits and berries should be at least 60 %) by combining the competencies of science and business. At present, hundreds of varieties of small fruit crops are included in the State Register of Breeding Achievements Admitted for Use. Domestic breeders have obtained substantial results; the share of their assortment is 79-100 %. Federal Research Center of Horticulture (Moscow) (101 pcs.), Federal Altai Research Center of Agrobiotechnology (Barnaul) (85 pcs.), Michurin Federal Research Center (Michurinsk) (42 pcs.) are the leaders in the number of created hybrids and varieties. Over the past five years, 133 new breeding achievements of traditional small fruit crops have been submitted to the State variety testing, the originators of which are research institutions, private companies and individuals. The creation of modern seed-breeding (nursery-breeding) centers (SBC) on the basis of leading specialized research institutions is expected to be the solution to the problems of modern breeding and nursery breeding and to give impetus to the development of domestic small fruit growing. The research programs of the SBC involve an integrated approach that combines the knowledge and capabilities of researchers from different disciplines, the concentration of a complex analytical instrument base in the Centers of collective use, the using of biotechnological and molecular genetic research, along with traditional methods of breeding. An analysis of the achievements in small fruit growing in research institutions under the jurisdiction of the Ministry of Science and Higher Education of the Russian Federation revealed a huge scientific potential (genetic collections, hybrid funds) for creating competitive commercial varieties and technologies for their cultivation by establishing plantations with certified planting material in accordance with international requirements. Information from literary sources indicates that one of the main criteria for the value of varieties is resistance to harmful viral diseases. The cultivation of such varieties will reduce the cost of producing planting material for small fruit crops of the highest quality categories. In the near future, the most relevant areas for the breeding of small fruit crops will be: breeding for resistance to the most harmful viruses, winter hardiness, increased transportability and long-term post-harvest storage of fruits, suitability for mechanized cultivation, high content of biologically active substances.
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PURPOSE: To perform a comparative analysis of ultrasound and hydrodynamic parameters, and the outcomes of femtosecond laser-assisted cataract surgery (FLACS) and conventional phacoemulsification cataract surgery (CPCS). MATERIAL AND METHODS: This prospective cohort study included 246 eyes. The first group consisted of 138 patients who underwent FLACS, second group - 108 patients after CPCS. RESULTS: Total ultrasound time was 95.36±47.93 and 113.3±97.71 seconds (p=0.04) in the 1st and the 2nd groups, respectively. The duration of torsional ultrasound was 84.72±50.03 seconds in 1st group (p=0.04) and 113.3±97.71 seconds in the 2nd group (p=0.04). Aspiration time was 208.3±95.86 seconds in the 1st group (p=0.04) and 258.43±158.81 seconds in the 2nd group (p=0.04). On the 3-4th day after the surgery, uncorrected distance visual acuity (UDVA) and corrected distance visual acuity (CDVA) were significantly better in the 1st group - 0.62±0.21 (LogMAR 0.20±0.19) and 0.53±0.15 (LogMAR 0.30±0.21) (p=0.01), respectively, compared to the 2nd group with UDVA of 0.75±0.18 (LogMAR 0.10±0.16) and CDVA of 0.69±0.19 (LogMAR 0.20±0.15) (p=0.04). Central corneal thickness (CCT) was 573.41±33.12 and 632.43±58.30 µm in the 1st and 2nd groups, respectively (p=0.020). At 1 month post-op there were no statistically significant differences in UDVA (p=0.17), CDVA (p=0.40) or CCT (p=0.50) between the groups. CONCLUSION: Compared with CPCS, total ultrasound time (p=0.04), torsional ultrasound time (p=0.04) and aspiration time (p=0.04) were significantly lower in the FLACS group. CCT was significantly lower (p=0.02), while UDVA (p=0.04) and CDVA (p=0.01) were significantly higher in the FLACS group in the early post-operative period (3-4 days after surgery). There were no statistically significant differences in the parameters between the groups 1 month after the surgery.
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Extracción de Catarata , Catarata , Facoemulsificación , Humanos , Terapia por Láser , Estudios ProspectivosRESUMEN
OBJECTIVE: To analyze vocal cords function after thyroid surgery by using of ultrasound examination. MATERIAL AND METHODS: Assessment of voice quality according to GRBAS scale, ultrasound examination of vocal cords and indirect laryngoscopy were performed in 57 patients after thyroid surgery. RESULTS: Postoperative indirect laryngoscopy and ultrasound revealed normal mobility of vocal cords in all patients. However, 98.3% of patients subjectively noted deterioration of voice quality due to hoarseness and fatiguein early and long-term period, respectively. Complete restoration of vocal function occurred after 6 months postoperatively. Impaired voice quality is probably due to edema of vocal cords after intubation that is manifested by unclear contours during ultrasound. Ultrasound is useful to diagnose shortening and displacement of paretic vocal cords. CONCLUSION: Ultrasound of vocal cords could be alternative to indirect laryngoscopy for postoperative assessment of vocal cords function in patients after thyroid surgery.
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Glándula Tiroides/cirugía , Tiroidectomía/efectos adversos , Pliegues Vocales/diagnóstico por imagen , Trastornos de la Voz/diagnóstico por imagen , Humanos , Laringoscopía , Ultrasonografía , Trastornos de la Voz/diagnóstico , Trastornos de la Voz/etiología , Calidad de la VozRESUMEN
PURPOSE: To analyze the results of femtosecond laser-assisted cataract surgery (FLACS) and conventional phacoemulsification cataract surgery (CPCS) in patients with 1-2 degree lens subluxation. MATERIAL AND METHODS: The follow-up involved 86 patients (89 eyes). The 1st group comprised 34 patients (35 eyes) that underwent FLACS; the 2nd group included 52 patients (54 eyes) who underwent CPCS. RESULTS: At day four of the follow-up central corneal thickness was significantly lower after FLACS (pm-u=0.024), but the difference did not remain statistically reliable by 1.5 months after the surgery. At discharge day and 4 months after the surgery uncorrected visual acuity (UCVA) after FLACS reliably exceeded UCVA of the 2nd group patients (pm-u=0.00) with mean UCVA being 0.61±0.29 and 0.42±0.25 respectively. Internal higher order aberrations (HOA) in 5.0 mm zone in the 1st group decreased by 4 times and amounted to 0.236±0.06 µm, in the 2nd group increased by 4.1 times and was 4.606±8.16 µm; the difference between the groups was statistically significant (pm-u<0.001). Mean endothelial cells density after FLACS was 2551.91±321.55 cells/mm2, after CPCS - 2352.35±436.68 cells/mm2 (pm-u<0.005). Complications after FLACS included 2 cases (5.71%) of posterior capsular rupture and 1 case (2.8%) of post-op corneal edema; patients after CPCS had 6 (11.1%) and 12 (22.2%) complication cases respectively. CONCLUSION: FLACS is the safer and more effective surgery choice for patients with 1-2 degree lens subluxation in comparison with CPCS; it decreases the risk of possible complications and provides faster postoperative rehabilitation.
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Extracción de Catarata , Catarata , Terapia por Láser , Subluxación del Cristalino , Facoemulsificación , HumanosRESUMEN
The mtDNA polymorphism in representatives of various archaeological cultures of the Developed Bronze Age, Early Scythian, and Hunnish-Sarmatian periods was analyzed (N = 34). It detected the dominance of Western-Eurasian haplotypes (70.6%) in mtDNA samples from the representatives of the ancient population of the Early Bronze Age--Iron Age on the territory of Altai Mountains. Since the 8th to the 7th centuries BC, a sharp increase was revealed in the Eastern-Eurasian haplogroups A, D, C, andZ (43.75%) as compared to previous cultures (16.7%). The presence of haplotype 223-242-290-319 of haplogroup A8 in Dolgans, Itelmens, Evens, Koryaks, and Yakuts indicates the possible long-term presence of its carriers in areas inhabited by these populations. The prevalence of Western-Eurasian haplotypes is observed not only in the Altai Mountains but also in Central Asia (Kazakhstan) and the South of the Krasnoyarsk Krai. All of the three studied samples from the Western-Eurasian haplogroups were revealed to contain U, H, T, and HV. The ubiquitous presence of haplotypes of haplogroup H and some haplogroups of cluster U (U5al, U4, U2e, and K) in the vast territory from the Yenisei River basin to the Atlantic Ocean may indicate the direction of human settlement, which most likely occurred in the Paleolithic Period from Central Asia.
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ADN Mitocondrial/genética , Genética de Población/historia , Paleontología , Haplotipos , Historia Antigua , Humanos , Kazajstán , Mitocondrias/genética , Polimorfismo Genético , Federación de RusiaRESUMEN
TaqIB polymorphism of the gene encoding cholesterol ester transporting protein (CETP) was analyzed in the Caucasian population of West Siberia and in groups contrast by total serum cholesterol content. The patients were selected for the study from the main sample of HAPIEE project (9600 examined subjects aged 45-69 years, 50% men). Analysis was carried out in 293 patients with high levels of total cholesterol (>300 mg/dl), 293 patients with normal and low levels of total cholesterol (<200 mg/dl), and 265 patients represented the population sample (mean level of total cholesterol 235.8±43.9 mg/dl). The frequencies of B1B1, B1B2, and B2B2 genotypes in the population were 27.5, 54.8, and 17.7%, respectively. The incidence of allele B2 was 45.1, 45.2, and 50.2% in the population and in groups with normal and high total cholesterol levels, respectively (p>0.05). Associations of CETP gene TaqIB (rs708272) polymorphism with HDL cholesterol levels was detected in groups with high and low total cholesterol levels (p=0.014 and p=0.008). CETP gene TaqIB polymorphism B2B2 genotype was associated with high level of HDL cholesterol and a more favorable lipid profile.
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Proteínas de Transferencia de Ésteres de Colesterol/genética , Colesterol/sangre , Dislipidemias/genética , Anciano , Femenino , Frecuencia de los Genes , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Metabolismo de los Lípidos/genética , Masculino , Persona de Mediana Edad , Polimorfismo de Longitud del Fragmento de Restricción , Federación de Rusia , Población BlancaRESUMEN
AIM: to evaluate association between genetic polymorphism (SNPs) and myocardial infarction (identified in recent GWAS) as markers of high risk of myocardial infarction (MI) in Siberian population. Patients were divided into 2 groups - MI patients and control group (ratio 1:2) and presented the sapmle of population of Novosibirsk (9400 patients, 45-69 years) within international project HAPIEE (Health, Alcohol and Psychosocial factors In Eastern Europe). 200 patients with MI (129 men, 71 women) were included. Control group - individuals without MI (420) matched for age and sex. Genomic DNA was extracted from venous blood by phenol-chloroform extraction. Gene polymorphism of genes tested by real-time PCR according to protocol (probes TaqMan, Applied Biosystems, USA) with the use of ABI 7900HT. The following SNPs were studied: rs28711149, rs499818, rs619203, rs10757278 and rs1333049 (hr. 9), rs1376251, rs2549513, rs4804611, rs17465637. The association of SNP and MI was confirmed for 4 of 9 studied SNPs: rs1333049 (hr. 9), rs10757278 (hr. 9), rs499818 (hr. 6), rs619203 gene ROS1. Heart rate was associated with rs1333049 and rs10757278. Glucose level was associated with rs619203, rs28711149 and rs1376251. Total cholesterol and atherogenic index was associated with rs28711149. For the first time in Russian population the associations of GWAS with myocardial infarction SNPs was detected for rs619203, rs499818, rs1333049 and rs10757278. These genetic markers can be used for assessing the risk of myocardial infarction in Russian population.
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Aterosclerosis , Frecuencia Cardíaca/genética , Hipercolesterolemia , Infarto del Miocardio , Polimorfismo de Nucleótido Simple , Anciano , Aterosclerosis/epidemiología , Aterosclerosis/genética , Femenino , Predisposición Genética a la Enfermedad , Estudio de Asociación del Genoma Completo , Humanos , Hipercolesterolemia/epidemiología , Hipercolesterolemia/genética , Masculino , Persona de Mediana Edad , Infarto del Miocardio/epidemiología , Infarto del Miocardio/genética , Factores de Riesgo , Siberia/epidemiologíaRESUMEN
In order to estimate the distribution of some polymorphisms for the CCR5, CCR2, apoE, p53, ITGB3, and HFE genes in Russian long-livers from Western Siberia, a sample of 271 individuals (range 90-105 years) was examined. It was demonstrated that carriage of the delta32 polymorphism for the CCR5 gene, V64/polymorphism for the CCR2 gene, e2/e3/e4 for the apoE gene, L33P for the ITGB3 gene, as well as H63D and S65C polymorphisms for the HFE gene does not influence on predisposition to the longevity; carriage of the 282 Y allele for the HFE gene negatively influences on the longevity; carriage of the heterozygous genotype for the R72P polymorphism for the p53 gene correlates with the longevity of elderly people.
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Apolipoproteínas E/genética , Genes p53/genética , Antígenos de Histocompatibilidad Clase I/genética , Integrina beta3/genética , Longevidad/genética , Proteínas de la Membrana/genética , Polimorfismo Genético , Receptores CCR5/genética , Adulto , Anciano , Anciano de 80 o más Años , Alelos , ADN/genética , Frecuencia de los Genes , Genotipo , Proteína de la Hemocromatosis , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , SiberiaRESUMEN
Polymorphism of coding fragment of APOE gene was analyzed in two groups of men. The main group consisted of 77 residents of the West Siberian region aged 45-65 years with coronary atherosclerosis (documented by coronary angiography) without acute coronary syndrome with stable effort angina, functional class II-IV. The reference group consisted of 350 residents of Novosibirsk, aged 45-69 years. Statistically significant associations between genotypes of APOE gene coding part polymorphism and some key lipid risk factors (blood total and LDL cholesterol, atherogenic index, etc.) for coronary atherosclerosis were found in male residents of the West Siberian region. Elevated total mean level of cholesterol was detected in male residents of Novosibirsk with the APOE genotypes containing ε4 allele.
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Apolipoproteínas E/genética , LDL-Colesterol/sangre , Enfermedad de la Arteria Coronaria/sangre , Enfermedad de la Arteria Coronaria/genética , Polimorfismo de Nucleótido Simple/genética , Ensayo de Inmunoadsorción Enzimática , Genotipo , Humanos , Técnicas para Inmunoenzimas , Masculino , Persona de Mediana Edad , Factores de Riesgo , SiberiaAsunto(s)
Sistemas de Administración de Bases de Datos/organización & administración , Interpretación de Imagen Radiográfica Asistida por Computador/métodos , Sistemas de Información Radiológica/organización & administración , Humanos , Intensificación de Imagen Radiográfica/métodos , Intensificación de Imagen Radiográfica/normasRESUMEN
Aim of the study was identification of genes and their polymorphisms associated with pathological tortuosity (PT) of internal carotid arteries (ICA) for elucidation of etiological causes of this anomaly taking into consideration its high prevalence and clinical significance. We invited for examination 61 families of children with previously diagnosed PT ICA and used color Doppler duplex scanning of brachiocephalic zone in examination of close relatives of a proband. Samples of venous blood were taken from a family member in whom PT ICA had been detected and the affected child. The group of patients for genotyping comprised 100 individuals with PT ICA. Control group (n=245) was formed from DNA bank on the basis of population approach. The following genetic methods of diagnosis were applied: clinico-genealogical, allele specific polymerase chain reaction, search in available data bases of PT ICA candidate genes and their polymorphisms. According to data of genealogy analysis in most cases inheritance of pathological sign of tortuous ICA was autosomal dominant (37.7%) or autosomal-recessive (39.3%). Association of A80807T polymorphism of the transcriptional factor Sp4 gene with PT ICA was established. Probability of PT ICA in A80807/A80807 homozygotes was 1.64 times higher than in carriers of 2 other genotypes (A80807/T80807 and T80807/T80807).
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Arteria Carótida Interna/anomalías , ADN/genética , Polimorfismo Genético , Factor de Transcripción Sp4/genética , Anomalía Torsional/genética , Malformaciones Vasculares/genética , Velocidad del Flujo Sanguíneo , Arteria Carótida Interna/diagnóstico por imagen , Niño , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Reacción en Cadena de la Polimerasa , Prevalencia , Siberia/epidemiología , Anomalía Torsional/epidemiología , Ultrasonografía Doppler en Color , Malformaciones Vasculares/epidemiologíaRESUMEN
Aim of the study was to elucidate genetic markers associated with elevated risk of sudden cardiac death (SCD). We collected autopsy material during 1999 - 2001 in a process of forensic medical pathologo-anatomical examination of corpses of 182 men who had died suddenly in Octyabrsky district of Novosibirsk in the age of 25 - 64 years (mean age 53,6 +/- 7,9 years). We studied polymorphisms of the following genes: angiotensin converting enzyme - , glycoprotein IIb/IIIa - GPIIb/IIIa, alpha2b adrenoreceptor - ADRA2B, beta(1)-adrenoreceptor - ADRB1. Control comprised samples of population of men aged 25 - 35 and 55 - 64 years from the same district of Novosibirsk examined within framework of international WHO project MONICA. Comparison of frequencies of genotypes of polymorphism A1/A2 of GPIIb/IIIa gene in combined sample of population and group with SCD revealed in SCD group lowering of portion of A2/A2 homozygotes (5.0 and 1.2%, respectively, =0.029) and elevation of portion of A1/A2 heterozygotes (18.7 and 28.3%, respectively, =0.027). Odds ratio for a heterozygote to enter SCD group was 1.71 (95% confidence interval 1.0 to 2.77). Comparison of frequencies of genotypes and alleles of polymorphism A145G of ADRB1 gene in combined sample of population and group with SCD did not reveal any difference. Comparison of frequencies of polymorphism I/D of ACE gene in combined sample of population and group with SCD revealed significant lowering of frequencies of genotype I/I in SCD group (22.0 and 13.8%, respectively, p=0.033). There were no significant differences between SCD group and control in frequencies of studied polymorphism of alpha2b-adrenoreceptor gene.
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Enfermedades Cardiovasculares/genética , ADN/genética , Muerte Súbita Cardíaca , Peptidil-Dipeptidasa A/genética , Complejo GPIIb-IIIa de Glicoproteína Plaquetaria/genética , Polimorfismo Genético , Receptores Adrenérgicos/genética , Adulto , Cadáver , Enfermedades Cardiovasculares/metabolismo , Enfermedades Cardiovasculares/mortalidad , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos , Siberia/epidemiologíaRESUMEN
We carried out examination of 103 probands with atrial fibrillation (AF) and 301 their 1st, 2nd, and 3rd degree relatives (main group). In addition we examined 82 probands without clinical electrocardiographic signs of heart disease and 163 their 1st and 2nd degree relatives (control group). We found accumulation of AF in families of probands with this pathology. Segregation analysis of idiopathic forms of AF allowed to reveal autosomal dominant type of inheritance of this pathology. Heterozygous variant of Ser49Gly of betai-adrenoreceptor gene can be considered as one of genetic predictors of development of how primary and secondary AF.
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Fibrilación Atrial/genética , Quinasa 2 del Receptor Acoplado a Proteína-G/genética , Adolescente , Adulto , Anciano , Sustitución de Aminoácidos , Niño , Preescolar , Femenino , Pruebas Genéticas , Glicina/genética , Humanos , Masculino , Persona de Mediana Edad , Linaje , Polimorfismo Genético , Serina/genética , Adulto JovenRESUMEN
AIM: to study the frequency of alleles and genotypes of APOE gene in women with gallstone disease (GSD), and also to research the association of the APOE gene polymorphism and bile lithogenicity indices. MATERIALS AND THE METHODS: were investigated 104 women after cholecystectomy about verified cholesterol gallstones, and 176 women from the female Novosibirsk population, they were control group for the comparison of the frequency of APOE alleles and genotypes. Gallbladder bile (bile cholesterol, common bile acids) was investigated in women with GSD. Blood serum lipids and APOEgene polymorphism were studied in all women. RESULTS: APOE gene polymorphism in the women with GSD did not differ from those registered in control group from women population. At the presence of APOE4 allele at the women with GSD the significant increase of gallbladder biliary cholesterol level was marked. In the women with GSD with various APOE genotypes average levels of blood serum lipids, common bile acids and bile cholesterol indices were similar.
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Apolipoproteínas E/genética , Bilis/metabolismo , Colelitiasis/genética , Colesterol/metabolismo , Polimorfismo Genético , Adulto , Alelos , Ácidos y Sales Biliares/metabolismo , Estudios de Casos y Controles , Colelitiasis/metabolismo , Femenino , Cálculos Biliares/genética , Cálculos Biliares/metabolismo , Frecuencia de los Genes , Humanos , Lípidos/sangre , Persona de Mediana Edad , Reacción en Cadena de la PolimerasaRESUMEN
The spectrum of mutations in the low-density lipoprotein (LDL) receptor gene was studied in a sample of hypercholesterolemia patients of Caucasoid origin from the population of Russia. The examined patients were 45 to 49-years-old and had the highest level of total serum cholesterol in this age group. Seven previously non-described mutations have been revealed in exon 9 (R410G; M412V) and in exon 12 (Y/Y576; N/N591; L605V; L605R; A612G). Twelve previously described mutations have been identified in exons 2 (C/C27), 5 (C261F; E240X), 6 (E288K), 8 (A391T), 9 (E418G; L432R; D433E), 11 (G/G549; E558K; L/L568), and 12 (G592E). Only one of these mutations was previously described in Russia in a clinical sample of patients with familial hypercholesterolemia. The spectrum of LDL receptor gene mutations in the population sample of patients with hypercholesterolemia significantly differs from the mutation spectrum in patients with familial hypercholesterolemia (clinical samples). Sequencing of the LDL receptor gene is a highly efficient method for identifying the markers of hypercholesterolemia predisposition in a population.