Prevalence and molecular characterization of G6PD variants among subjectively healthy Eritrean ethnic groups

Introduction: Glucose-6-phosphate dehydrogenase deficiency is the most prevalent X-linked enzymatic deficiency affecting more than 400 million people worldwide. To date, Eritrean population have never been genotyped for glucose-6-phosphte dehydrogenase (G6PD) variants. The aim of this study is to characterize and determine the prevalence of four common G6PD variants in subjectively healthy all nine Eritrean ethnic groups.Methods: A total of 401 finger prick dried blood spot samples were collected onto 3 mm Whatman filter paper from volunteer unrelated subjectively healthy nine ethnic groups residing in all six zobas (regions) of Eritrea. Analysis was performed using polymerase chain reaction/restriction fragment length polymorphism for four common G6PD variants, namely, normal G6PD B, G6PD A (A376G), G6PD A- (G202A) and G6PD Mediterranean (C563T).Results: Molecular studies performed on a total 401 subjectively healthy Eritrean ethnic groups showed that 352 (89.1%) carried the normal G6PD B allele and 43 (10.9%) had the G6PD A (A376G) variant. The median age of study participants was 33 years, and 75% of the study participants were under 46 years. No cases of G6PD A- and Mediterranean mutations were identified, leaving six samples uncharacterized.Conclusions: The current study showed a high prevalence of normal G6PD B and G6PD A genotypes among subjectively healthy Eritrean ethnic groups.These findings are similar to those reported from neighboring countries, Ethiopia and Sudan and other parts of the world

Haplotype data and forensic evaluation of 23 Y-STR and 12 X-STR loci in eight ethnic groups from Eritrea

Eritrea is a multi-ethnic country of over 3 million of people consisting of different ethnic groups, having each its own language and cultural tradition. Due to the lack of population genetic data for markers of forensic interest, in this study, we analyzed the genetic polymorphisms of 23 Y-chromosome STR loci and of 12 X-chromosome STR loci in a sample of 255 unrelated individuals from 8 Eritrean ethnic groups, with the aim to generate a reference haplotype database for anthropological and forensic applications. X- and Y-chromosomes markers may indeed offer information especially in personal identification and kinship testing, when relying on the availability of large local population data to derive sufficiently accurate frequency estimates. The population genetic analyses in the Eritrean sample for both the two set of Y- and X-STR markers showed high power of discrimination both at country-based and population levels. Comparison population results highlight the importance of considering the ethnic composition within the analyzed country and the necessity of increasing available data especially when referring to heterogeneous populations such as the African ones