RESUMO
The purpose of study is to examine associations of polymorphic allele genes HLA class II - DRB1, DQA1 and DQB1 and their haplotypic combinations with chronic obstructive disease of lungs in workers of organocilicic manufacture in Chuvash population. The HLA-genotyping was implemented to 50 patients with chronic obstructive disease of lungs and 38 healthy workers of organocilicic manufacture, belonging to Chuvash ethnic population. The genotyping was implemented on three genes HLA: DRB1 (14 alleles), DQA1 (8 alleles) and DQB1 (11 alleles) using multi-primary polymerase chain reaction technique. The typing was implemented using kits manufactured by "DNA-Technology" (Russia). The degree of association ofHLA-alleles and gaplotypes with development of chronic obstructive disease of lungs in conditions of organocilicic manufacture was determined by value of relative risk (rr). The study established negative associations of chronic obstructive disease of lungs with alleles HLA-DRB1*01 (rr=0.021; p<0.001); DQA1*0101 (rr=0.013; p<0.001); DQB1*0501 (rr=0.021; p<0.001) andgaplotypes DRB1*01-DQA1*0101 (rr=0.031; p<0.01); DRB1*07-DQA1*0201 (rr=0.076; p<0.01); Bm1*13-DQA1*0102 (rr=0.11; p<0.05). The HLA-markers of resistance to development of chronic obstructive disease of lungs in conditions of organocilicic manufacture in Chuvash population.
Assuntos
Cadeias alfa de HLA-DQ/genética , Cadeias beta de HLA-DQ/genética , Cadeias HLA-DRB1/genética , Doença Pulmonar Obstrutiva Crônica/genética , Adulto , Idoso , Alelos , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Técnicas de Genotipagem , Haplótipos/genética , Humanos , Masculino , Pessoa de Meia-Idade , Exposição Ocupacional , Doença Pulmonar Obstrutiva Crônica/induzido quimicamente , Doença Pulmonar Obstrutiva Crônica/epidemiologia , Doença Pulmonar Obstrutiva Crônica/patologia , Federação Russa , Silício/toxicidadeRESUMO
Familial benign polycythemia (FBP) (OMIM 263400) is a rare autosomal recessive condition characterized by erythrocytosis, normal leukocyte and platelet counts, normal uric acid level, and usually increased erythropoietin production. There is a high incidence of this disorder in Chuvashia (Russian Federation), probably due to a founder effect. In an attempt to locate the gene responsible for this disorder, we have carried out linkage studies in 12 Chuvash families, with 35 affected and 32 unaffected members. Linkage to the erythropoietin and erythropoietin receptor loci was excluded, and the FBP gene was assigned to the region of chromosome 11q23 between D11S4142 and D11S1356, with a maximal lod score of 6.61.
