Author/Editor		Rupreht, Ruth
Title		Molekularno genetska analiza krvnih skupin Rhesus v slovenski populaciji: posebnosti, presejalno testiranje in prenatalna diagnostika
Type		monografija
Place		Ljubljana
Publisher		Medicinska fakulteta
Publication year		2000
Volume		str. 86
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 homolous genes, RHCE and RHD respectively. In the RhD negative phenotype the ORD gene is deleted. Mutated forms of RHCE and RHD genes give rise to protein products with different extracellualr conformation. Consequelntly, 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 antigen c and e in Slovenian family P; to find a cause that prevents RHD exon 9 fragment amplification using RHD Multiplex PCR in weak D donors; to design and introduce allele specific PCRs for weak D type I, II, III and XIV identification; to estimate the frequencies of weak D type I, II, III and XIV in the Slovenian population and to introduce prenatal RHD genotyping from amniotic fluid using the RHD Multiplex PCR method. 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 Ile306Val aminoacid change. Due to a change in the aminoacid composition an extracellular conformation of the protein is precumably changed in a way that the protein can not be recognised by specific antibodies. (Abstract truncated at 2000 characters).
Descriptors		RH-HR BLOOD-GROUP SYSTEM PRENATAL DIAGNOSIS MASS SCREENING POLYMERASE CHAIN REACTION GENOTYPE PHENOTYPE BASE SEQUENCE POLYMORPHISM (GENETICS) TRANSCRIPTION, GENETIC PEDIGREE