VSE knjižnice (vzajemna bibliografsko-kataložna baza podatkov COBIB.SI)
  • Molekularna genetska analiza posebnosti pri krvnih skupinah Rhesus v slovenski populaciji
    Rupreht, Ruth
    The Rhesus blood group system consists of 46 antigens and is clinically the most important second only to the AB0 blood group system. Rh proteins (D, ce; Ce, cE and CE) are integrated into the red ... cell membrane and are presumably organised into twelve transmembrane domains. Extracellular loops are responsible for Rh protein immunogenicity. The RH gene locus is located on chromosome 1 at position p34-p36 and is composed of two adjacent highly homologous genes, RNCE and RHD respectively. In the RhD negative phenotype theRHD gene is deleted. Mutated forms of RHCE and RHD genes give rise to protein products with different extracellular conformation. Consequently, interactions of specific antibodies with proteins are hindered. The aims of the present work were to find a cause for the unusual inheritance of Rh antigens c and a in Slovenian family P. Since the phenotypes and genotypes forantigens e and c of some members of Slovenian family P did not match, we concluded that these family members carry and inherit RHce allele; which is not expressed. RHCE gene full transcripts of the family members were sequencedand a point mutation A916G was found on the RHce allele. The A916G mutation is responsible for Ile306Va1 aminoacid change. Due to a change in theaminoacid composition an extracellular conforniation of the protein is presumably changed in a way that the protein can not be recognised by specificantibodies.
    Vir: Raziskovalno delo podiplomskih študentov v Sloveniji - novo tisočletje. Naravoslovje in tehnika : jesen - zima (Str. 421-432)
    Vrsta gradiva - članek, sestavni del
    Leto - 2001
    Jezik - slovenski
    COBISS.SI-ID - 15000025

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