Premium
DO/ART4 gene sequencing in sub‐Saharan cohorts and African migrants: useful data describing the diversity and spreading of rare variants
Author(s) -
ChapelFernandes Sylvie,
Movia Catherine,
Jordier François,
Durousseau de Coulgeans Cécile,
Chiaroni Jacques,
Bailly Pascal
Publication year - 2019
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/trf.15572
Subject(s) - genotyping , allele , martinique , ethnic group , allele frequency , phylogenetic tree , genotype , genetics , african descent , genetic diversity , biology , evolutionary biology , demography , gene , population , ethnology , west indies , political science , history , sociology , law
BACKGROUND Due to the unavailability of immunological reagents, the Dombrock blood group is insufficiently explored in African populations and can be a source of alloimmunization. A large study including pygmoid and nonpygmoid ethnic groups from East, Central, and West continental Africa, together with African migrants like Comorians, Afro‐Caribbean from Martinique, and Maroons from French Guiana would be helpful to increase transfusion safety. STUDY DESIGN AND METHODS Using genomic DNA extracted from blood samples collected from 336 nonpygmoid and 51 pygmoid Africans as well as 268 samples of African descent, DO coding regions were PCR‐amplified and sequenced. RESULTS DO*A and DO*B alleles were detected in almost all groups, with a clear predominance of DO*B in every cohort tested. DO*JO and DO*HY allele frequencies reached 10% or more in several ethnic groups. DO*B‐SH‐Gln149Lys , DO*B‐Ile5Thr , and DO*DODE variants were identified both in African ethnic groups and outside Africa. Twelve novel variants were characterized on a DO*A or a DO*B background. Five of them were found in both African and migrant cohorts, the others were restricted to either within or outside Africa. No DO*DOYA , DO*DOLG , DO*DOLC , nor DO*DOMR variants were observed. A first phylogenetic tree was proposed including all variant alleles. CONCLUSION This study across continental Africa and countries with African migrants provides a useful overview of Dombrock allele diversity and distribution. The identification of 12 new alleles underlines the importance of genotyping for Dombrock alleles, particularly to improve transfusion safety in countries hosting migrant populations of African descent.