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  • Genetska analiza Alportovega sindroma v slovenski populaciji : [magistrsko delo]
    Gorinšek, Benjamin
    Alport syndrome (AS) is hereditary progressive nephropathy, which is characterized by renal failure accompanied by hematuria and varying degrees ofproteinuria, sensorineural deafness, and eye ... lesions. Carrier females have avariable and generally milder clinical course of disease. In 95% of male patients the disease is characterized by complete renal failure. Pathognomonicfindings in glomerular basement membrane (GBM) such as thickeningand thinning with splitting of the lamina densa have been revealed at the ultrastructural level. In vast families, AS is inherited as a dominant X-chromosome-linked trait. Mutations in COL4A5 gen (Xq22), which codes for major structural component of GBM - alpha5 chain of collagen IV, have been found in majority (85%) of families with X-chromosome-linked AS . To date, close to 300 different mutations have been identified in COL4A5 gene which appear randomly along the gene. Mutations in COL4A3 and COL4A4 genes, located at 2q35, cause autosomal recesive and dominant type of AS. Approximately 420 bp apart form COL4A5 gene is located COL4A6 gene, which is believed to be involved in aetiology of a rare type of AS companied by diffuse leiomiomatosis. Here, we report the first systematic mutation screening of all51 exons with boundary intronic sequences of COL4A5 gene by SSCP analysis in 16 randomly collected AS suspected families in slovenian population. Seven different mutations were identified in 8 families by cycle sequencing. A previous described mutation G624D (GGT>GAT) has been identified in two families. We identified seven different mutations, six of them are to the bestof our knowlage newČ G669R (GGT>CGT), G325R (GGA>CGA), R266X (CGA>TGA), G811R (GGA>AGA), G319D (GGT>GAT) and 1234+17 T del. Intronic mutation 1234+17 T del most likely influences the splicing of mRNA. (Abstract truncated at 2000characters).
    Vrsta gradiva - magistrsko delo
    Založništvo in izdelava - Ljubljana : [B. Gorinšek], 2000
    Jezik - slovenski
    COBISS.SI-ID - 2177556

Knjižnica Signatura – lokacija, inventarna št. ... Status izvoda
MF, Centralna medicinska knjižnica, Ljubljana magistrske naloge
GORINŠEK Benjamin Genetska
IN: 020000825 		prosto - na dom, čas izposoje: 1 mes.
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