Author/Editor		Kosec, Gregor
Title		Načrtovanje in optimizacija metod za genotipizacijo šibkega RHD
Type		monografija
Place		Ljubljana
Publisher		Fakulteta za kemijo in kemijsko tehnologijo
Publication year		1999
Volume		str. 46
Language		slo
Abstract		Rhesus (Rh), one of 25 blood group systems known thus far, is clinically very important. It consists of 46 antigens. The Rh proteins are integral red cell transmembrane proteins. Parts of the proteins that are located on the extracellular part of the membrane are serologically recognized as antigens. RH gene locus consists of two highly homologous genes: RHD that encodes a protein RhD and RHCE that encodes proteins Rhce, RhCe, RhcE and RhCE. RhD antigen that lacks some epitopes is called partial D. In January 1999 Wagner et ai. reported 14 types of mutation carrying RHD genes that were named weak D. The aim of this study was to design and optimize ASPA PCR methods to characterize the weak D donors in the Slovenian population. 89 donors (selected by routine serological testing among 20000 donors) were tested by ASPA PCR methods for weak D types I, II, iII and XIV. 42 donors were determined to be weak D type I, 18 weak D type II, 20 weak D type III and one weak D type XIV. We will be able to characterize the 8 remaining donors, which were not assigned to the four types, mentioned above, after designing ASPA PCR methods for other weak D types Prior to the testing we had to determine standard donors for weak D types III and XIV by gradually modifying ASPA PCR reaction conditions. Appropriate exons of the RHD gene were sequenced confirming the weak D type III donor to contain the mutation C8G and weak D type XIV mutations T544A, A594T and C602G. These two donors could be referred to as standard donors in the subsequential applications of ASPA PCR methods. (Abstract truncated at 2000 characters)
Descriptors		RH-HR BLOOD-GROUP SYSTEM GENOTYPE PHENOTYPE POLYMERASE CHAIN REACTION BLOOD DONORS POINT MUTATION POLYMORPHISM (GENETICS)