Laboratoire d’Hématologie, de Génie Génétique et Cellulaire, Faculté de Médecine et de Pharmacie de Casablanca, Université Hassan II de Casablanca, Casablanca, Morocco
Introduction: Historically, Morocco has known many successive conquests and invasions that have induced genetic changes in its autochthons population. It’s known that blood groups are among the most polymorphic systems. The study of ABO blood groups showed that their distribution varied in different populations. The aim of this study is to analyze the diversity and genetic differentiation of ABO system in the Moroccan population.
Material and methods: Data of ABO system genetic polymorphism from previous study were analyzed using statistical approaches which are the classical and the Bayesian methods. The classical approach has been used to assess genetic differentiation by adopting multivariate analysis type: PCA (Principal Component Analysis) and the index of genetic differentiation Fst. The Bayesian approach was used to assess the genetic structure of ABO system in the Moroccan population compared to other countries.
Results: Within the studied Moroccan population, 10 ABO alleles and 21 genotypes were identified. The heterozygosis rate is about 0.74 and 0.72, respectively, for the expected and observed heterozygosis.
PCA analysis shows that the studied population forms 4 groups. Data of genetic distances confirm the presence of Morocco within a group formed by Kuwait, Spain and Jordan with low genetic distances of 1%, 1.8% and 2%, respectively. The Bayesian analysis shows that all the countries, except Germany, present 5 genetic pools. Besides Morocco and Kuwait that have been found to present 5 genetic pools with similar frequencies.
Conclusion: The Moroccan population studied exhibits similarity with the countries of the Middle East and the southwest of Europe.
Purpose: Glycogen storage disease type 1b (GSD1b) is a rare autosomal recessive metabolic defect of glycogenolysis and gluconeogenesis which results from a deficiency of the glucose-6-phosphate translocase. GSD 1b is characterized by chubby face, hypoglycemia, hyperlipidemia, hyperuricemia, hepatomegaly, nephromegaly and growth retardation. GSD1b patients also show neutropenia and/or neutrophil dysfunction that cause increased susceptibility to recurrent bacterial infections and inflammatory intestinal diseases. From 2010 to 2014, 3 cases of GSD1b were diagnosed in Morocco. The purpose of this paper is to report the clinical and genetic characteristics of those GSD1b patients.
Methods: We investigated the genetic, immunological and clinical features of 3 Moroccan patients with GSD1b from 3 unrelated kindreds.
Results: All patients experience chubby face, hepatomegaly, hypoglycemia, hypercholesterolemia / hypertriglyceridemia / hyperuricemia and failure to thrive. All cases suffered from recurrent bacterial and/or fungal infections due to neutropenia. The sequencing of SLC37A4 gene showed the same mutation c.1042_1043delCT in the homozygous state. In the absence of treatment with recombinant human granulocyte colony-stimulating factor (G-CSF), the evolution was marked by the death of two cases in an infectious context despite symptomatic and preventive treatment.
Conclusion: Further studies on a large cohort are required to determine the incidence and prevalence of the disease, and to improve the description of the genetic and clinical features of GSD1b patients in Morocco.