RESUMO
We selected 42 patients with bipolar disorder type I (BPI) and 40 healthy controls for genetic analysis of DNA polymorphisms in the serotonin receptor 2c (5-HTR2c) and serotonin transporter (5-HTT) genes. No significant associations were found in the total patient sample. However, when the individuals were divided according to gender, trends for association with both polymorphisms (P = 0.051 for 5-HTR2c and P = 0.049 for 5-HTT) in female patients were observed. These results suggest that variations in these genes may be responsible for a minor increase in susceptibility for bipolar disorder in women.
Assuntos
Transtorno Bipolar/genética , Proteínas de Transporte/genética , Glicoproteínas de Membrana/genética , Proteínas de Membrana Transportadoras , Proteínas do Tecido Nervoso , Receptores de Serotonina/genética , Serotonina/metabolismo , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Fragmento de Restrição , Receptor 5-HT2C de Serotonina , Serotonina/genética , Proteínas da Membrana Plasmática de Transporte de SerotoninaRESUMO
We selected 83 patients with bipolar disorder type I or unipolar recurrent major depression and 71 healthy controls for genetic analysis of the tyrosine hydroxylase and the dopamine D4 receptor gene. No significant association was found between bipolar disorder type I and unipolar recurrent major depression and the polymorphisms located near these genes. Therefore, the hypothesis that the tyrosine hydroxylase and the dopamine D4 receptor genes may be involved in the etiology of bipolar disorder and unipolar recurrent major depression is not supported in our study.
Assuntos
Transtorno Bipolar/genética , Transtorno Depressivo/genética , Receptores de Dopamina D2/genética , Tirosina 3-Mono-Oxigenase/genética , Adulto , Idoso , Transtorno Bipolar/enzimologia , Croácia , Transtorno Depressivo/enzimologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , Receptores de Dopamina D4Assuntos
Transtorno Bipolar/genética , Mapeamento Cromossômico , Receptores de Dopamina D2/genética , Receptores de GABA-A/genética , Receptores de Serotonina/genética , Humanos , Polimorfismo Genético , Receptores de Dopamina D3 , Serotonina/metabolismo , Transmissão Sináptica , Cromossomo X , Ácido gama-Aminobutírico/metabolismoRESUMO
Allele frequencies of 15 STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, and FGA) were determined in a sample of 163 unrelated individuals from the Republic of Macedonia. AmpFISTR Identifiler Kit (Applied Biosystems) was used for PCR amplification. For all 15 loci, the combined matching chance is 6.6 x 10(18) and the power of exclusion is 99.999954%.
Assuntos
Frequência do Gene , Genética Populacional , Sequências de Repetição em Tandem , Impressões Digitais de DNA , Humanos , Reação em Cadeia da Polimerase , República da Macedônia do NorteRESUMO
Genetic transmission in manic depressive disorder (MDD) has been explored in linkage and association studies. The X-linked transmission hypothesis has been tested by using several markers on chromosome X. The hypothesis of autosomal transmission has been tested by association studies with the 0 blood group located on chromosome 9, as well as linkage studies on chromosome 6 and chromosome 11. Although linkage studies support the hypothesis of a major locus, several factors are limiting the results which are discussed in the present review.
Assuntos
Transtorno Bipolar/genética , Transtorno Bipolar/diagnóstico , Ligação Genética , Marcadores Genéticos , Humanos , Cromossomo XRESUMO
Population studies were carried out on unrelated individuals of Croatian ancestry. Genomic DNA was amplified by the polymerase chain reaction (PCR) at the polymorphic microsatellite loci HUMCD4 (n = 105 individuals) and HUMF13B (n = 108 individuals). After horizontal polyacrylamide gel electrophoresis followed by silver staining 6 alleles and 12 genotypes were observed for HUMCD4 and 6 alleles and 13 genotypes could be identified for HUMF13B. Data obtained were in concordance with the prediction of Hardy-Weinberg equilibrium. The allele frequency data were compared with Austrian and Italian population samples and no significant deviations between these populations were observed.
Assuntos
Mapeamento Cromossômico , Marcadores Genéticos/genética , Genética Populacional , Polimorfismo Genético/genética , Sequências Repetitivas de Ácido Nucleico/genética , Alelos , Croácia , Frequência do Gene/genética , Triagem de Portadores Genéticos , Genótipo , Humanos , Repetições de Microssatélites/genética , Reação em Cadeia da PolimeraseRESUMO
The 15 AmpF lSTR Identifiler loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818 and FGA) were analyzed in the sample of 100 unrelated, autochthonous healthy adult Serbians from Novi Sad (Vojvodina Province, Serbia and Montenegro). The agreement with HWE was confirmed for all loci with the exception of D7S820 (based on the chi2-test only). The combined power of discrimination (PD) and the combined power of exclusion (PE) for the 15 tested STR loci were 0.99999999999999995 and 0.9999990, respectively. According to the presented data, D2S1338 and D18S51 are the most informative markers. Based on allelic frequencies and statistical parameters for forensic testing, it may be suggested that the AmpF lSTR Identifiler detection system represents a powerful strategy for individual identification and parentage analysis in the Serbian population.
Assuntos
Genética Populacional , Sequências de Repetição em Tandem , Adulto , DNA/sangue , Impressões Digitais de DNA/métodos , Bases de Dados de Ácidos Nucleicos , Frequência do Gene , Genótipo , Humanos , Reação em Cadeia da Polimerase , IugosláviaRESUMO
Austrian and Croatian Caucasian population data were generated for eight tetrameric STR loci amplified in a single multiplex reaction. Fluorescent detection was employed using the ABI Prism 310 Genetic Analyzer, the 377 DNA Sequencer (ABI) and the 373A DNA Sequencer (ABI). The loci analyzed were HUMvWFA31 (vWA), HUMTH01, HUMTPOX, HUMCSF1PO, D5S818, D13S317, D7S820 and D16S539 as part of the GenePrint PowerPlex multiplex system.
Assuntos
Reação em Cadeia da Polimerase/métodos , Sequências de Repetição em Tandem/genética , População Branca/genética , Alelos , Áustria , Croácia , Medicina Legal , Frequência do Gene , Humanos , Espectrometria de FluorescênciaRESUMO
The gamma-aminobutyric acid (GABA) neurotransmitter system has been implicated in the pathogenesis of mood disorders. To test this hypothesis we carried out an association study between a dinucleotide repeat polymorphism in the GABAA receptor alpha 5 subunit gene and bipolar and unipolar mood disorders. Our results suggest a possible involvement of this gene in unipolar but not in bipolar disorder.
Assuntos
Transtorno Depressivo/genética , Receptores de GABA-A/genética , Adulto , Idoso , Transtorno Bipolar/genética , DNA/análise , Feminino , Ligação Genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Polimorfismo Genético , RecidivaRESUMO
The aim of this study is to analyze short tandem repeat (STR) variation using data on 9 loci (D3S1358, VWA, FGA, THO1, TPOX, CSF1PO, D5S818, D13S317, D7S820) from the subpopulations of 6 villages on the island of Hvar, Croatia. The STR data help us to analyze the genetic structure of Hvar. The analysis of STR data in this study indicated genetic homogeneity among the village subpopulations on Hvar and the lack of the so-called east-west dichotomy, which had been indicated by some previous multidisciplinary anthropological studies. The observed value of GST (0.030) is most probably a consequence of high STR mutation rates, which produce a high level of within-group (village) diversity relative to total diversity of the population. The validity of STR markers in assessing genetic structure of small populations and especially in determining the relationships among closely related and reproductively isolated groups remains to be further evaluated.
Assuntos
Variação Genética , Genética Populacional , Repetições Minissatélites/genética , Polimorfismo Genético , Distribuição de Qui-Quadrado , Croácia , Feminino , Frequência do Gene , Humanos , Masculino , Vigilância da População , Reprodutibilidade dos Testes , Sensibilidade e EspecificidadeRESUMO
The aim of this study was to analyse short tandem repeat (STR) variation using the data on nine loci (D3S1358, vWA, FGA, THO1, TPOX, CSF1PO, D5S818, D13S317, D7S820) in the populations from eight villages on the island of Korcula, Croatia, in order to analyse its genetic and population structure. The analysis of STR data in this study indicated an appreciable degree of genetic homogeneity among the studied village populations on the island, even though a so-called 'east-west dichotomy' and differentiation between the inhabitants of the most recent settlement and the remaining ones was indicated with respect to the loci CSF1PO and TPOX, respectively. The validity of STR markers in assessing genetic structure of small populations and especially in determining the relationships among geographically closely related but reproductively isolated groups remains to be further evaluated, especially in terms of a larger number of studied loci in order to possibly find specific markers useful for resolving genetic patterns of variability at regional levels.