Molecular genetics and clinical applications for RH

被引:149
作者
Flegel, Willy A. [1 ]
机构
[1] NIH, Dept Transfus Med, Ctr Clin, Bethesda, MD 20892 USA
关键词
Rhesus; Blood group; Molecular genetics; Molecular diagnostic; Transfusion; WEAK-D-TYPES; POLYMERASE-CHAIN-REACTION; AMINO-ACID SUBSTITUTIONS; ANTI-D ALLOIMMUNIZATION; TIME QUANTITATIVE PCR; BLOOD-GROUP ANTIGENS; MATERNAL PLASMA; FETAL DNA; HEMOLYTIC-DISEASE; RED-CELLS;
D O I
10.1016/j.transci.2010.12.013
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Rhesus is the clinically most important protein-based blood group system. It represents the largest number of antigens and the most complex genetics of the 30 known blood group systems. The RHO and RHCE genes are strongly homologous. Some genetic complexity is explained by their close chromosomal proximity and unusual orientation, with their tail ends facing each other. The antigens are expressed by the RhD and the RhCE proteins. Rhesus exemplifies the correlation of genotype and phenotype, facilitating the understanding of general genetic mechanisms. For clinical purposes, genetic diagnostics of Rhesus antigens will improve the cost-effective development of transfusion medicine. Published by Elsevier Ltd.
引用
收藏
页码:81 / 91
页数:11
相关论文
共 114 条
[1]   RhD variants in Caucasians: consequences for checking clinically relevant alleles [J].
Ansart-Pirenne, H ;
Asso-Bonnet, M ;
Le Pennec, PY ;
Roussel, M ;
Patereau, C ;
Noizat-Pirenne, F .
TRANSFUSION, 2004, 44 (09) :1282-+
[2]   Goodbye to agglutination and all that? [J].
Anstee, DJ .
TRANSFUSION, 2005, 45 (05) :652-653
[3]   High variability of the RH locus in different ethnic backgrounds [J].
Avent, ND .
TRANSFUSION, 2005, 45 (03) :293-294
[4]   Large-scale blood group genotyping - clinical implications [J].
Avent, Neil D. .
BRITISH JOURNAL OF HAEMATOLOGY, 2009, 144 (01) :3-13
[5]   Rapid genotyping of blood group antigens by multiplex polymerase chain reaction and DNA microarray hybridization [J].
Beiboer, SHW ;
Wieringa-Jelsma, T ;
Maaskant-Van Wijk, PA ;
van der Schoot, CE ;
van Zwieten, R ;
Roos, D ;
den Dunnen, JT ;
de Haas, M .
TRANSFUSION, 2005, 45 (05) :667-679
[6]   Noninvasive prenatal diagnosis of fetal Rhesus D - Ready for prime(r) time [J].
Bianchi, DW ;
Avent, ND ;
Costa, JM ;
van der Schoot, CE .
OBSTETRICS AND GYNECOLOGY, 2005, 106 (04) :841-844
[7]   Evolution of RH genes in hominoids:: Characterization of a gorilla RHCE-like gene [J].
Blancher, A ;
Apoil, PA .
JOURNAL OF HEREDITY, 2000, 91 (03) :205-210
[8]   LACK OF RH C/E EXPRESSION IN THE RHESUS D-- PHENOTYPE IS THE RESULT OF A GENE DELETION [J].
BLUNT, T ;
STEERS, F ;
DANIELS, G ;
CARRITT, B .
ANNALS OF HUMAN GENETICS, 1994, 58 :19-24
[9]   Hereditary stomatocytosis and cation leaky red cells - Recent developments [J].
Bruce, Lesley J. .
BLOOD CELLS MOLECULES AND DISEASES, 2009, 42 (03) :216-222
[10]   Structure, function and significance of Rh proteins in red cells [J].
Burton, Nicholas M. ;
Anstee, David J. .
CURRENT OPINION IN HEMATOLOGY, 2008, 15 (06) :625-630