Mutační analýza genů COL4A5 a COL4A3 u Alportova syndromu

Mutation Analysis of COL4A5 and COL4A3 Genes in Alport’s Syndrome

Alport’s syndrome belongs to the group of diseases caused by mutations in the genes coding collagen type IV.The localization of the collagen genes is connected with type of heredity of Alport’s syndrome. Genes responsiblefor the X-linked form (COL4A5, COL4A6) are localized on Xq22-24, genes for the autosomal recessive form onthe chromosome 2q35-37. The clinical symptoms of the disease are very varied, but the criteria necessary fordiagnosis of Alport’s syndrome were defined in 1988. They are: 1. family - history of haematuria, progression torenal failure, 2. characteristic changes of the glomerular basement membrane, 3. deafness for high tones, 4.ophthalmological abnormalities.Alport’s syndrome is a disease that reduces the quality of life of affected patients and if not treated, it hasa lethal prognosis. The solution is nowadays haemodialysis as symptomatic treatment and transplantation of thekidneys. The benefit of DNA diagnosis of this syndrome is for differential diagnosis assessment of heredity. Asthere are non-standard (random) mutations, it is necessary to screen mutations in the genes as well as indirectdiagnosis of carriers, when the syndrome is confirmed. This should be done genealogically, clinically and bymethods of molecular genetics, if possible.

Key words:
haematuria, inheritance, expression, screening, gene COL4A5, collagen, linkage analysis, polyme-rase chain reaction, single-strand conformation polymorphism, mutation, deletion, substitution