RESUMO
Indirect DNA analysis was performed on 12 families totalling 80 people. The analysis used five genetic markers flanking the gene: 3'HVR, pGGG, 218 EP6, 24-1, 26-6. In 11 of the families (92%), a linkage with the PKD1 gene in chromosome 16 was established. In one family, the disease did not segregate with the polymorphic markers of PKD1-locus, thus excluding any possibility that a mutation in this locus was the cause of the autosomal dominant polycystic kidney disease (ADPKD). A correlation was discovered between the positive echographic diagnosis and the genotype in the PKD1-dependent patients with ADPKD. In 28.6 percent of the children studied, and in 12.5 percent of subjects under the age of 30, the echographic diagnosis was corrected through DNA analysis.
Assuntos
DNA/análise , Rim Policístico Autossômico Dominante/genética , Adolescente , Adulto , Criança , Mapeamento Cromossômico , Cromossomos Humanos Par 16/genética , Feminino , Ligação Genética , Marcadores Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , LinhagemRESUMO
Review of the data is presented on the hereditary disease gangliosidosis GM1 and on the enzyme beta-galactosidose, deficiency of which is responsible for this disease. Heterogeneity of the disease and existence of various forms of beta-galactosidase are considered. Possible correlation is discussed between the defects of the enzyme forms detected and the type of the disease.
