Author/Editor		Rupreht, Ruth
Title		Molekularna genetska analiza posebnosti pri krvnih skupinah Rhesus v slovenski populaciji
Type		članek
Source		In: Florjančič U, Musar A, editors. Raziskovalno delo podiplomskih študentov v Sloveniji - novo tisočletje: naravoslovje in tehnika. Ljubljana: Društvo mladih raziskovalcev Slovenije,
Publication year		2001
Volume		str. 421-32
Language		slo
Abstract		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 the RHD 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 for antigens 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 sequenced and a point mutation A916G was found on the RHce allele. The A916G mutation is responsible for Ile306Va1 aminoacid change. Due to a change in the aminoacid composition an extracellular conforniation of the protein is presumably changed in a way that the protein can not be recognised by specific antibodies.
Descriptors		RH-HR BLOOD-GROUP SYSTEM RH ISOIMMUNIZATION PHENOTYPE GENOTYPE FAMILY POLYMERASE CHAIN REACTION POLYMORPHISM (GENETICS) EXONS