Phylogeography of E1b1b1b-M81 Haplogroup and Analysis of its Subclades in Morocco

In this work, we have analyzed a total of 295 unrelated Berber-speaking men from the northern, center and southern of Morocco, in order to characterize frequency of E1b1b1b-M81 haplogroup and to refine the phylogeny of its subclades: E1b1b1b1-M107, E1b1b1b2-M183 and E1b1b1b2a-M165. For this purpose, we have typed four biallelic polymorphisms: M81, M107, M183 and M165. As results, a large majority of the Berber-speaking male lineages belong to the Y chromosomal E1b1b1b-M81 haplogroup. The frequency ranged from 79.1 to 98.5% in all localities sampled. Then, the E1b1b1b2-M183 was the most dominant subclade in our samples, which ranged from 65.1% to 83.1%. In contrast, the E1b1b1b1-M107 and E1b1b1b2a-M165 subclades weren’t found in our samples. Our results suggest a predominance of E1b1b1b-M81 haplogroup among Moroccan Berber-speaking male with a decreasing gradient from south to north. Then, the most prevalent subclade in this haplogroup was E1b1b1b2-M183 in which difference between these three groups was statistically significant between central and southern groups

Cytogenetic analysis and SRY gene detection in four moroccan brothers with Disorder of sex development

The objective of this study is to determine the genetic cause of the disorder of sex development on Moroccan family. Indeed, the genomics and human genetics laboratory at the Pasteur Institute of Morocco recruited four brothers with ambiguous genitalia. Cytogenetic analysis of the first brother revealed the presence of a chimeric karyotype 46, XX/46, XY with the presence of the SRY gene. The other three brothers present a normal female karyotype 46, XX with the presence of the SRY gene

How is the SARS-cov-2 virus transmitted ?

Since December 2019, the recent outbreak of coronavirus disease (COVID-19) has continued to spread drastically around the world. To date, no approved drug or vaccine is available to treat or prevent this new coronavirus (SARS-CoV-2) infection.Unprecedented global effort has been made by researchers to understand the various routes of SARS-CoV-2 virus transmission in order to effectively preventthe contamination. In this review, we discuss the updated literature regarding the different modes of SARS-CoV-2 transmission

Prevalence of Thyroid Autoimmunity among Type 2 Diabetes Moroccan subjects: A Retrospective study

Type 2 diabetes (T2D) is a growing concern in the general Moroccan population and often associated with common endocrine disorders particularly thyroid dysfunction. The purpose of this study is to evaluate the prevalence of T2D and the thyroid autoimmunity (TDI) in Moroccan subjects.A retrospective study was conducted between January 2012 and December 2018. We collected data from 52 diabetic patients and 71 non-diabetic subjects (controls). Thyroid stimulating hormone (TSH), free thyroxin (FT4), free triiodothyronine (FT3), thyroid peroxidase antibodies (TPOAb), and thyroglobulin antibodies (TGAb) levels were measured using Chemiluminescent microparticle immunoassay. Fasting blood glucose (FBG), triglyceride (TG), and total cholesterol (CT) concentrations were determined using dry chemistry method. Hemoglobin A1c (HbA1c) level was evaluated using high performance liquid chromatography principle.   Among 52 diabetic subjects, 23 (44.2.8%) were positives for thyroid antibodies.  The TPOAb mean did not differ significantly between diabetic and control individuals  (24.51 ± 8.22 vs. 13.27 ± 3.72, p=0.167). However, regarding the TgAb level a significant difference was observed in T2D (20.32 ± 4.94 vs. 8.51 ± 2.59, p = 0.004) compared to subjects without diabetes. Hypothyroidism was reported in 52 diabetic patients (44.23%) and (50.7%) in non-diabetic subjects. The analysis of multiple logistic regressions indicated that high risk of TDI in diabetic patients   was not related to diabetes, sex, age, or status of dyslipidemia.Our data revealed no significant association between T2D and TDI disorders in Moroccan subjects. However, further studies on a large sample are needed to confirm these findings

Comparison of SARS-cov-2 RdRp protein with SARS-cov RdRp protein

The World Health Organization (WHO) declared, on January 30, 2020, a public health emergency of international scope because of the emergence of a new virus called SARS-cov-2. This new virus belongs to the coronavirus family and has a protein called RNA-dependent RNA polymerase (RdRp) which is responsible for the replication of viral RNA. RdRp protein is one of the most primary targets for antiviral drug discoveries. The aim of this paper was to compare the amino acid sequence of the RdRp of SARS-cov-2 with that of SARS-cov. Thus, we found that there is a 96% sequence similarity between them. Indeed, there is only a difference at the level of 32 amino acids. Interestingly, only one residue at C Motif and two residues at D Motif are different. However, all the residues of the motifs A, B, E, F and G are 100% identical with those of SARS-cov-RdRp

Y chromosome microdeletions in infertile Moroccan males: 10 years laboratory experience in AZF deletions

Genetic causes of male infertility are abnormalities in chromosome numbers and/or structures, Y-chromosome deletions and gene mutations. Genetic screening of male infertility is rarely done in our country. The purpose of the study was to investigate the frequencies and types of Y chromosome microdeletions in infertile men, based on studies done in the Human Genetics Laboratory of the Pasteur Institute in Morocco.A total of 543 infertile men were screened for Y chromosome microdeletions.The prevalence of AZF Y-chromosome microdeletions among infertile men range from 3% to 10% depending on patients selected. The most frequent microdeletions were detected in the AZFc region, followed by AZFbc, AZFb, AZFa, AZFab.These results indicate the need for Y chromosome microdeletion screening for better management of infertile patients.We hope to encourage use of genetic diagnosis and also research in this field to initiate collaboration for clinical management and appropriate genetic diagnosis and counselling for male infertility

Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma

PURPOSE: Retinoblastoma (RB), the most common intraocular tumor occurring in infancy and early childhood, is most often related to mutations in the RB1 gene. In this study, we screened the RB1 germline mutations in 41 unrelated Moroccan patients with retinoblastoma, 25 heritable cases, and 16 sporadic unilateral cases. METHODS: After complete ophthalmic examinations were performed and consent obtained, DNA was extracted from peripheral blood, and screening of RB1 mutations was performed with PCR direct sequencing of the promoter and the 27 coding exons of the RB1 gene. RESULTS: We identified ten germline mutations in 10/41 (24.39%) unrelated patients, among which three had not been previously reported. The mutation detection rate was 40% (10/25) in the heritable cases and 0% (0/16) in the sporadic unilateral cases. Of these mutations, six were nonsense, and three were frameshifts, all associated with severe phenotypes resulting in bilateral and multifocal tumors. One splice site mutation was found in a familial case associated with a low expressivity phenotype resulting in unilateral and unifocal tumors. Moreover, eight intronic variants were identified, three of which were novel. CONCLUSIONS: This first report of RB1 gene screening in Moroccan patients with retinoblastoma shows a comparable mutational spectrum to those reported previously, which has evident importance for managing patients with retinoblastoma and their families

Genetic study of sex inversion in humans

Sex reversal is considered to be a form of disorders of sex development or DSD (disorders/Differences of sex development). This is an inconsistency between gonadal, phenotypic and chromosomal sex. Sexual development, including the development of gonads and organs reproduction and the acquisition of secondary sexual characteristics, is under genetic control. Indeed, following the bibliographic study carried out in this report, we were able to better understand the pathophysiology of sex reversal, enumerate the associated genetic mutations and identify the signaling pathways affected. In addition, a retrospective study was performed to determine the frequency of sex reversal compared to other categories of DSD. This work focused on a sample of 981 patients with clinical signs indicating the presence of DSD. These patients presented to the Cytogenetics laboratory of the Institut Pasteur in Morocco between the years 2011 and 2021. The karyotype was performed on a heparinized tube according to the standard method. Based on the karyotype results, we found 74 cases of sex inversion corresponding to 7.54%. Abnormal karyotypes accounted for 37.31% with a predominance of Turner syndrome (41.53%), 26.23% of Klinefelter syndrome, 12.3% of patients presented with XY female type sex inversion, 7.92% with sex reversal type XX men and 7.65% had mixed gonadal dysgenesis. Finally, to guide the diagnosis, we established a course of action indicating the genes which are the most incriminated in the two types of sex inversion

Association of Spermatogenic Failure with the b2/b3 Partial AZFc Deletion

Infertility affects around 1 in 10 men and in most cases the cause is unknown. The Y chromosome plays an important role in spermatogenesis and specific deletions of this chromosome, the AZF deletions, are associated with spermatogenic failure. Recently partial AZF deletions have been described but their association with spermatogenic failure is unclear. Here we screened a total of 339 men with idiopathic spermatogenic failure, and 256 normozoospermic ancestry-matched men for chromosome microdeletions including AZFa, AZFb, AZFc, and the AZFc partial deletions (gr/gr, b1/b3 and b2/b3)