RESUMO
BACKGROUND: The RH system is one of the most polymorphic blood group systems due to the proximity and opposite orientation of RHD and RHCE genes. Numerous alleles are described and can affect Rh protein expression. This complexity is especially evident in populations of African origin. We performed RHD and RHCE genotyping of the Noir Marron population in French Guiana. This population belongs to the Maroon community who are direct descendants of African slaves, who escaped from Dutch plantations, in the current day Suriname, during the 17th century. They represent an original ethnic group with highly blended culture. METHODS AND MATERIALS: A total of 89 DNA samples were collected from four different ethnic groups of the Noir Marron population of French Guiana. RHD and RHCE genotyping was performed using DNA microarray and/or sequencing. RESULTS AND DISCUSSION: Significant allelic diversity was shown, with 45% of individuals presenting an RHD gene variant (most common: RHD*DAU, RHD*DIVa, and RHD*DIIIa allele) and 9.4% with a partial D phenotype. Likewise, 85% presenting an RHCE gene variant and 9% a partial RH2 antigen. One original allele was identified in two D+ Noir Marron individuals: a hybrid RHD*DIIIa-CE(9)-D allele, encoding probably a partial D antigen and associated with an RHCE*ce(48C,733G,1006T) allele. The African diversity of RHD and RHCE genes is found in this population with preserved genetic but mixed cultural backgrounds. These data allow us to describe the characteristics of the RH system antigen and highlights a significant number of partial antigens with a risk of alloimmunization.
Assuntos
Cultura , SurinameAssuntos
Mutação Puntual , Polimorfismo de Nucleotídeo Único , Sistema do Grupo Sanguíneo Rh-Hr/genética , Alelos , Substituição de Aminoácidos , Anemia Falciforme/terapia , População Negra/genética , Transfusão de Sangue , Epitopos/química , Epitopos/genética , Feminino , Regulação da Expressão Gênica , Haplótipos/genética , Humanos , Isoanticorpos/imunologia , Fenótipo , Gravidez , Prolina , Sistema do Grupo Sanguíneo Rh-Hr/biossíntese , Sistema do Grupo Sanguíneo Rh-Hr/imunologia , População Branca/genéticaRESUMO
The Cromer blood group system consists of 19 antigens (16 of high prevalence and 3 of low prevalence). This study describes the identification and characterization of a new Cromer high-prevalence antigen, named CORS. The CORS-negative proband carries a c.713G>A substitution in the CD55 gene, resulting in the substitution of glycine 238 into a glutamic acid (p.Gly238Glu).
