RESUMO
Four hundred and forty two adult individuals of Estonian nationality were examined in different regions of Estonia for the C282Y and H63D HFE mutations to determine the allele and genotype frequencies. The sample consisted only of those people whose at least four grandparents were born in Estonia, and have lived settled in the same region. The study was carried out using the PCR technique and restriction analysis for C282Y and H63D mutations respectively. For the C282Y mutation the frequency of heterozygotes was 6.6% and homozygotes 0.2%, giving allele frequency 0.035. The allele frequency for the H63D mutation was 0.136, and the frequency of homo- and hetero-zygotes 1.6% and 24.0% respectively.
Assuntos
Ácido Aspártico/genética , Cisteína/genética , Hemocromatose/epidemiologia , Hemocromatose/genética , Histidina/genética , Mutação , Tirosina/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Análise Mutacional de DNA , Primers do DNA , Estônia/epidemiologia , Estônia/etnologia , Feminino , Frequência do Gene , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase/métodosRESUMO
In previous studies, the highest frequencies (16%) of the CCR5 delta32 deletion have been found in populations of Finno-Ugric origin. We here report a high CCR5 delta32 frequency (15%) in another Finno-Ugric populations, the Estonians. The highest frequency (18%) was found on the geographically isolated Estonian island of Dagö. We examined 504 healthy unrelated individuals of Estonian nationality, whose grandparents were born in Estonia. The polymerase chain reaction assay was performed and the amplified products were digested with EcoRI.
Assuntos
Deleção de Genes , Genética Populacional , Infecções por HIV/genética , HIV-1/genética , Receptores CCR5/genética , Sequência de Bases , Estônia , Feminino , Frequência do Gene , Infecções por HIV/prevenção & controle , Humanos , Masculino , Dados de Sequência Molecular , Reação em Cadeia da Polimerase , Polimorfismo Genético , Vigilância da PopulaçãoRESUMO
The distribution of glutathione S-transferase T1 (GSTT1) phenotypes was studied in a total sample of 673 Estonians whose four grandparents were born in Estonia, by an ELISA test able to differentiate between GSTT1 positive and GSTT1 negative phenotypes. 18% of the total sample did not present GSTT1-1 protein in whole blood. GSTT1-1 concentration was assayed in 519 out of the 552 GSTT1 positive subjects (i.e. 82% of the total sample) 49% percent of this subsample made up by 519 subjects was found to have GSTT1-1 in intermediate concentration and 33% in high concentration. The gene frequency of the GSTT1 deleted allele was estimated to be 0.423 as the square root of the frequency of the GSTT1 negative subjects (square root of 0.18 = 0.423) and that of the GSTT1 positive allele as (1-0.423) = 0.577. Statistically significant regional differences were found within the population with the lowest frequency of GSTT1 negative in western Estonia (9.5%) and the highest in the southeastern part of the country (24.5%).
Assuntos
Ensaio de Imunoadsorção Enzimática , Glutationa Transferase/genética , Polimorfismo Genético , Adolescente , Adulto , Distribuição de Qui-Quadrado , Estônia , Humanos , Recém-Nascido , Pessoa de Meia-Idade , FenótipoRESUMO
The distribution of glutathione S-transferase Mu 1 (GSTM1) gene deletion was examined in 151 healthy, unrelated individuals from an Estonian population. The study was carried out using the polymerase chain reaction technique. The frequency of individuals with allele GSTM1*0 in homozygous state in Estonian population was 0.503.
