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  • Raziskava genov Col4A3, Col4A4 in Col4A5 za odkrivanje mutacij in njihovih posledic pri sindromih družinskih hematurij : doktorska disertacija = Study of Col4A3, Col4A4 in Col4A5 genes, mutations and their consequences in familial hematuric syndromes : PhD thesis
    Šlajpah, Maja
    Mutation in the type IV collagen genes (COL4A3, COL4A4 and COL4A5) have been reported in Alport syndrome (AS) and benign familial hematuria (BFH). AS is a progressive inherited nephropathy, ... characterized by irregular thinning, thickening and splitting of the glomerular basement membrane (GBM), often associated with hearing loss and ocular symptoms. BFH is a dominantly inherited nephropathy manifested by uniform thinning of the GBM on ultrastructural examination, lifelong glomerular hematuria, minimal proteinuria and usually normal renal function. Considering the similarities inGBM abnormalities, BFH cannot be clinically differentiated from initial stages of AS. We analyzed 112 patients from 43 unrelated families with suspected AS or BFH. A nonisotopic single stranded conformational analysis (SSCA) after amplification of 52, 47 and 51 exons with boundary intronic sequences of COL4A3, COL4A4 and COL4A5 genes was used for mutation screening. Six different mutations were found in COL4A5 gene in Alport syndrome suspectedpatients, comprising four missense mutations (G198E, G310R, G624D, K664N), a splice site mutation (1234+5 G>T) and a mutation causing frameshift (3615-3616del C). In COL4A3 gene three (G487C, G1015E, 3547-3548insGGA) and inCOL4A4 four mutations (3353 G>C + 3354-3358delACCAG, 3068+2T>G, 3497+1G>A), all in heterozygous state, were identified only in patients with benign familial hematuria. Ten of the mutations are to the best of our knowledge new and private. A mutation was detected in 80% of AS patients and in 22% patientsdiagnosed with BFH and we found our optimised non-isotopic SSCA as cost effective, simple, efficient and suitable method for mutation screening and diagnostics. Our study broadened the spectrum of mutations in COL4A3, COL4A4 and COL4A5 and demonstrated the involvement of the COL4A3 and COL4A4 genes in the pathogenesis of BFH. (Abstract truncated at 2000 characters)
    Vrsta gradiva - disertacija ; neleposlovje za odrasle
    Založništvo in izdelava - Ljubljana : [M. Šlajpah], 2005
    Jezik - slovenski
    COBISS.SI-ID - 223305216

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Univerzitetna knjižnica Maribor Skladišče II 61967 prosto - za čitalnico
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