The effects of various methods of preservation (freeze-drying and storage at 4 degrees C; low-temperature freezing on desiccated silica gel and storage at -70 and -150 degrees C; cryopreservation and ...storage at -196 degrees C) on viability and genetic stability of the bacterium Escherichia coli HB101 carrying the recombinant plasmid with the human DNA fragment were studied. Genetic stability was estimated by maintenance of the selective markers of antibiotic resistance and the stability of the restriction sites in recombinant DNA. Freezing on silica gel and cryopreservation were shown to be the optimal preservation methods providing a high level of survival and genetic stability.
The study aimed at searching for mechanisms of communicative impairments in patients with schizophrenia and their relatives. To evaluate a contribution of attention and memory to communication ...efficacy and to ability for understanding mental states of others, 100 patients with schizophrenia and schizoaffective psychosis, 150 their healthy relatives and 145 controls have been studied. The results confirmed a presence of communicative deviations in the patients with schizophrenia and their relatives. In these groups, communication deficit was determined by disturbance of 1 out of 4 communication principles--the principle of information quantity. Attention and memory did not exert any significant influence on communication efficacy in the patients and their relatives. Distinct deterioration of fulfilling the tasks demanding mentalizing ability was found only in the patients. However, no correlation was revealed between this deterioration and communication peculiarities.
A study was made of the association of the allele polymorphism of the 3′VNTR locus of the dopamine transporter (DAT) gene with schizophrenia, schizo-affective psychosis, and affective disorders. ...Three alleles (440, 480, and 520 nt) were found and the allele and genotype frequencies estimated in all groups. The allele and genotype frequencies in patients with depression significantly differed from those in controls and in patients with bipolar affective psychosis and schizophrenia. The results were correlated with the averaged MMPI profiles of controls and affective patients. In the latter group, 480/480 homozygotes significantly differed from patients with the other genotypes in the mean score on Hypochondria and Hysteria scales. The possible association of the DAT-3′VNTR polymorphism and individual syndromes, which are related to different mechanisms of psychological defense, is discussed.
Polymorphic marker Ser9Gly of dopamine receptor D3 gene is considered perspective for associative studies of schizophrenia. Allele and genotype frequency of this polymorphism were studied in ...different ethnic groups of schizophrenic patients as well as the attempts have been made to reveal an association with clinical presentations of the disease. However, the results are inconsistent. The present study aimed at investigating Ser9Gly DRD3 gene polymorphism in Russian sample of schizophrenic patients. One hundred and fifty patients with ICD-10 diagnosis of schizophrenia (broad definition), 69 male and 81 female, aged 34.8+/-13.87 years, age at disease onset 24.3+/-9 years, have been examined. Control group consisted of 150 healthy subjects without family history of schizophrenia, 60 male and 90 female, aged 32.7+/-13.5 years. No between-group differences have been found for Ser9Gly DRD3 allele and genotype frequencies. However, a frequency of homozygous genotype Gly/Gly was significantly higher in female patients, comparing to female controls (p=0.038 Yate's corrected, OR 9. CI 0.95% 1.0-79.5). A role of sex-dependent association between Ser9Gly DRD3 polymorphism and schizophrenia is discussed.
The genotype at theTaqIB locus of the dopamine receptor D2 (DRD2) gene was established by PCR in 113 healthy donors and 340 patients with endogenous psychoses. The allele and genotype frequencies in ...patients with affective psychoses significantly differed from those in controls and in patients with schizophrenia. The proportion of B2/B2 homozygotes decreased with increasing contribution of the affective component to the clinical manifestation of schizo-affective and affective disorders. TheTaqIB polymorphism was assumed to play a role in mood aberrations in patients with mental disorders.
Current concepts on the role of genetic factors in the development of schizophrenia and on the relative risk for this disease and spectrum disorders are reviewed. An analysis of the results of ...genetic counseling of 120 subjects revealed that, comparing to other mental disorders, patients with schizophrenia or relatives, mostly those having a schizophrenic parent (40%) or spouse (25%), referred more frequently for a consultation. Most of the referrals (70%) had a high educational level. As it was found out during the counseling, up to 20% of the relatives met a diagnosis of psychiatric disorders, mostly personality disorder (9%) and depressive state (7%). Psychological testing with personality inventories revealed a high level of personality abnormalities (schizoid--22%, hyperthymic--16% and obsessive-anxiety--4%) in 43% close relatives of patients seeking medicogenetic advice. The genetic counseling featured by the use of the comprehensive approach, basing on all obtained data (psychiatric, psychological, neurophysiologic etc.), that increases its accuracy and may assist families in taking a reasonable decision in birth planning.
Genetic predisposition is thought to exert a certain influence on the indices related to longevity and quality of life. Many of the indices, namely cognitive functioning, stress resistance, ...metabolism control, may be related to serotonin activity. To study polymorphic serotonin transporter gene variants and their association with features relevant for survival and longevity prognosis, a sample of elderly Russians from Moscow community recruited in the project "Stress-related mechanisms in Russia", comprising 196 subjects, mean age 76.2+/-5.3 years, 155 men, 41 women, has been genotyped. Allele and genotype frequencies have been estimated in 3 groups, aged 60-69, 70-79 and 80-87 years, respectively. A trend (chi2=4.1; p=0.12) to the prevalence of individuals with SS genotype (21.8%), as compared to expected level (14.6%), was found in the group of octogenarians (n=55, mean age 82.8+/-1.9 years). An association analysis between genotype and physiological traits revealed a genotype contribution to past smoking on tendency level (p=0.069), waist to hip ratio (WHR) (p=0.012) and plasma insulin concentration (p=0.02), with a higher frequency of SS genotype among non-smokers and subjects with lower WHR and insulin concentration. Genotype effect on the traits was stronger, being considered in interaction with the age above 80 years. Genotype was not associated with cognitive functioning (MMSE), but proved to be a significant predictor of MMSE performance (p=0.03) in octogenarians. The results obtained are in line with current concepts of serotonin role in smoking, obesity and cognitive functioning.
To clarify nosologic differences between schizoaffective psychosis (SAP) and attack-like progressive schizophrenia at molecular-genetic level, the genetic polymorphism of serotonin receptor type 2A ...(5HTR2A), serotonin transporter (5-HTTLRP), and brain-derived neurotrophic factor (BDNF) was studied in 563 patients with schizophrenia (mean age 37.7+/-14.4 years, age at disease onset 26.7+/-11.4 years), and 171 patients with SAP (mean age 30.7+/-11.6 years, age at disease onset 24.9+/-8.5 years). The control group consisted of 536 psychiatrically well subjects. Clinical symptoms and personal features were evaluated as well. By comparison with schizophrenic patients, those with SAP were featured by subtle negative symptoms and personality changes that supported the evidence that SAP is a disorder with a favorable outcome. Molecular-genetic studies revealed higher frequencies of S allele and SS genotype (5-HTTLPR polymorphism), which are thought to be associated with depression and depressive symptoms, and higher frequency of BDNF genotypes, containing Met allele, in combination with 5-HTTLRP genotypes containing L allele, in patients with SAP as compared to the schizophrenic group. C allele and CC genotype (T102C 5-HTR2A polymorphism) frequencies were higher in both groups of patients vs. controls. In conclusion, the results confirm the concept considering SAP an independent nosologic category.
The interindividual variation of temperament features (such as anxiety, neuroticism, harm avoidance) is determined, in particular, by allele polymorphism of genes involved in serotonin metabolism and ...has earlier been associated with the insertion/deletion polymorphism of the serotonin transporter gene. Polymorphic alleles of the serotonin 2A receptor gene (5HTR2A) were tested for association with personality traits assessed with several tests. The T102C and A1438G polymorphisms were associated with a variation in emotionality, activity, and sociability, which are integral characteristics of temperament. With each polymorphism, differences were significant only between heterozygotes and homozygotes. Carriers of T102C genotype A1/A2 displayed a lower level of anxiety-related traits, a higher score on scale Hypomania, and a lower score on scale Social Introversion and were assumed to have higher activity and sociability. Carriers of A1428G genotype A/G differed from homozygotes G/G in having a lower level of social introversion and a lower score on scale No close friends, which testified to higher sociability of heterozygotes. Thus, the polymorphic alleles of SHTR2A proved to be associated with personality traits in mentally healthy people.
