R. Tamouza, K. Sadki, V. Scheaffer, E. Carbonnelle, Z. Tatari, J. Chabod, A. Toubert, C. Raffoux, C. Sayada, D. Charron.
A novel HLA-B null allele (B*4022N) generated by a nonsense codon in the a1 domain.
Tissue Antigens, 2000, 55 : 378-380.
Abstract:
We report here an additional HLA-B*51 variant, HLA-B*5116. Detected by an abnormal serological reactivity pattern, this variant was identified as a B*51 allele by PCR-SSP and characterized by nucleotide sequencing. The new variant sequence match closely with the classical HLA-B*5101 excepted two adjacent nucleotides at positions 216 and 217 of the third exon, leading to a Leucine to Glutamic acid change at codon 163 of the a2 domain (CTG -> GAG). Sequence analysis of exons 2, 3 and 4 showed that the nucleotide differences are introduced into the B*5116 sequence by a short gene conversion event with another HLA class I allele. On the other hand, this new variant was not detected in three different ethnic groups (French, Algerian, and Lebanese) suggesting a very rare frequency in the Caucasian population.

R. Tamouza, N. El Kassar, V. Scheaffer, E. Carbonnelle, Z. Tatari, F. Marzais, C. Fortier, J.C. Poirier, K. Sadki, F. Bernaudin, A. Toubert, R. Khrishnamoorthy, and D. Charron.
A novel HLA-B*39 allele (HLA-B*3916) due to a rare mutation causing cryptic splice site activation.
Human immunology, 2000, 61, 467-473.
Abstract:
A novel HLA-B*39 variant, found in an African patient with sickle cell anemia undergoing bone marrow transplantation is described. Initially suspected by inconsistent serological typing (B-blank, Bw6), then recognized by PCR-SSP and finally characterized by nucleotide sequencing, this novel allele is designated HLA-B*3916. It differs from HLA-B*3910 by a point mutation (G to C) at position 17 of exon 3 causing Glutamine to Histidine change at codon 96 of a2 domain, a conserved position among HLA class I alleles. cDNA sequence analysis further revealed the presence of both normally and abnormally spliced mRNA species in established cell lines. The abnormal species correspond to partial truncation of exon 3 presumably due to the nucleotide change in exon 3 which constitutes a new consensus acceptor splice site within this exon. We postulate that the observed blank is essentially the consequence of qualitative change in a critical region of this novel antigen as abnormal mRNA species are relatively less abundant than normal species. Since the residue 96 of the HLA class I heavy chain is directly involved in interaction with b2m, another interesting possibility is that an aminoacid change in this position would perturb such interaction and consequently could affect the serological specificity of B*3916, or its expression or both.

R. Tamouza, E. Carbonnelle,V. Scheaffer, K. Sadki, Y. Abed, F. Marzais, J.C. Poirier, C. Fortier, A. Toubert, C. Raffoux, D. Charron.
A novel HLA-B*51 allele (B*5116) identified by nucleotide sequencing.
Tissue Antigens, 1999, 55 : 182-184.
Abstract:
We describe in this work a novel HLA-B null allele designated B*4022N. This new variant was found in a Caucasian individual who was serologically typed for one HLA-B allele as a B-blank, Bw-blank. Retrospective DNA typing by PCR-SSP has established the correspondence of this blank allele with the classical HLA-B*4001 allele. Nucleotide sequence analysis of exon 2 and 3 has revealed the presence of two adjacent point mutations at position 170 and 171 of exon 2 (GG to TT). While the first difference is silent, the second leads to the creation of a nonsense codon at position 58 of the a1 domain, providing the most likely mechanism underlying the observed null phenotype.

Alae-eddine GATI
CDROM "Pathologies Infectieuses dans le Monde".

Dépôt Légal: Novembre 2005. ISBN: 2005FI0044

Résumé:

"Pathologies Infectieuses dans le Monde" est le fruit d'un travail de synthèse qui a duré six années. Il est conçu dans un but préventif et dans une forme facilement abordable pour les voyageurs intéressés et pour un public non médical et contient une grande quantité d'informations actualisées sur l'épidémiologie mondiale des risques liés aux maladies infectieuses qui prévalent dans 215 destinations à travers le monde.
Une centaine de maladies infectieuses (virales, bactériennes, parasitaires et mycosiques) et quelques toxi-infections sont décrites selon l'agent étiologique, le mode de transmission, la clinique, la distribution géographique, ainsi que les mesures prophylactiques à prendre.

Ce cédérom vous permet également de déterminer vos besoins en vaccins et en médicaments préventifs. Il contient des informations et des conseils appropriés sur les risques présents dans divers environnements (vecteurs, aliments, eaux de baignade…) et sur les multiples précautions à prendre (protection contre les insectes ou autres vecteurs de maladie, hygiène alimentaire et générale…etc.).

R. EL Aouad, K. Sadki, A. Barakat , EL Harti , F. Saidi, B. Naouri.
Dépistage anonyme non corrélé du sida au centre de dépistage et de confirmation du sida. 

Revue Marocaine et santé .1996 27, 1,14-26.

K. Sadki, R. Tamouza, M. Busson, Z. Hajji, A. Berraho-Hammani, A. Sadak, V. Scheaffer, J.C. Poirier, R. Ramasawmy, R. Khrishnamoorthy, R. El Aouad, D. Charron.
MHC polymorphism and Behcet disease in Morocco, 2001.
In press dans European Journal of Immunogénétique.
Abstract:
Behcet disease, a well defined clinical entity of unknown etiology, is however recognized as an immunological disorder, MHC region influencing the disease development. Here we have studied the contribution of MHC region in a subset of 33 Behcet Patients and matched controls from Morocco. HLA-A, B, Cw, DRB1, and DQB1 polymorphism as well as TNFa and TNFd microsatellite alleles and the -308 promoter polymorphism were studied. We found a strong correlation between Behcet Disease and HLA-B51 (48.48% vs 10.00%, pc =0.023), especially the B*5101 allele. Statistically no significant difference was observed for the HLA-A and HLA-Cw loci altough discrete increase of Cw*16 could be noted in the patient group. HLA class II polymorphism analysis revealed both an under representation of DQB1*03 alleles and over representation of DQB1*07 allele among patients (0% vs 40%, pc= 0.004 and 21,21% vs 0%, pc = 0.05). Data provided by the TNF studies show that more patients carry the TNFd3 allele (86.21% vs 53.57%, pc = 0.035). Finally, the common TNFA1 promoter allele was found to be significantly associated with the disease. Altogether our findings emphasis the immunogenetic basis control of Behcet disease in Morocco.

Les teignes du cuir chevelu dans les écoles primaires de Khémisset (Maroc).

Journal de Mycologie Médicale, 2001, Vol 11, N°4: 181-184

Résumé:

Afin d'évaluer l'épidémiologie des teignes du cuir chevelu chez les enfants des écoles primaires du secteur public et d'établir sa prévalence en fonction des circonstances favorisantes, une étude a été menée dans 33 écoles tirées au sort de la province de Khémisset (Maroc). Le prélèvement mycologique réalisé par la technique de la brosse a été effectué sur 1 000 enfants sélectionnés selon la méthode en grappes. Les résultats ont montré que l'épidémiologie des teignes du cuir chevelu au Maroc s'est modifiée dans le temps avec une prédominance nette de la teigne due aux espèces anthropophiles dont la prévalence reste relativement élevée (3,6 %). Ainsi parmi les espèces causales, Trichophyton schoenleinii et Microsporum canis diminuent progressivement au profit de Trichophyton violaceum.

 Mohammed LYAGOUBI, Aziz BARKIA & Alae-eddine GATI

Parasitic infections in Morocco.

Regional worshop on integrated control of parasitic infections.

Tunis, 22-24 avril 2001.

 Mohammed LYAGOUBI & Alae-eddine GATI

Quality assurance of malaria diagnosis in Morocco.

Intercountry workshope on quality assurance of laboratory diagnosis for malaria.
Téhéran, 2-5 septembre 2001.

 Mohammed LYAGOUBI & Alae-eddine GATI

Prise en charge des accès palustres chez les voyageurs.

Symposium "Médecine du voyage". INH, Rabat, 20 décembre 2001.

Flore fongique pathogène des bains maures de Rabat (Maroc).

Journal de Mycologie Médicale, 2003, Vol 13, N°1: 13-23

Résumé:

Vingt bains maures de la ville de Rabat, sélectionnés par tirage au sort, ont fait l'objet de la recherche de leur flore fongique pathogène. Les analyses ont été axées essentiellement sur la recherche de champignons responsables de mycoses de la peau, des muqueuses ou des phanères, particulièrement Candida albicans et les dermatophytes. Les résultats de cette étude ont montré que le sol de tous les bains était contaminé par des champignons pathogènes. Ainsi, 79,8 % des prélèvements se sont révélés positifs. Le taux d'isolement de Candida albicans est de 65,3 %, celui des dermatophytes est de 34,7 %, avec prédominance de Trichophyton rubrum (82,3 % des dermatophytes isolés). Le sol de la salle de repos est le plus infesté (90 % des prélèvements), ainsi que celui de la salle froide avec 88,9 %. La salle chaude est la plus contaminée par Candida albicans avec un taux de 80 %. Candida albicans est plus abondant dans les bains fréquentés par les femmes. L'infestation des " hammams " est inversement proportionnelle au niveau socio-économique où se situe le bain maure.

L. Baala, S. Hadj-Rabia, D. Hamel-Teillac, M. Hadchouel, C. Prost, S. M. Leal, E. Jacquemin, A. Sefiani, Y. de Prost, G. Courtois, A. Munnich, S. Lyonnet and P. Vabres.
Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28.
J Invest Dermatol. 2002 Jul; 119(1): 70-6.
Abstract:

Ichthyosis is a heterogeneous group of skin disorders characterized by abnormal epidermal scaling. Occasionally, extracutaneous features are associated. A novel autosomal recessive ichthyosis syndrome is described here with scalp hypotrichosis, scarring alopecia, sclerosing cholangitis, and leukocyte vacuolization in two inbred kindreds of Moroccan origin. We also report the mapping of the diseased gene to a 21.2 cM interval of chromosome 3q27-q28. Homo zygosity for polymorphic markers has enabled us to reduce the genetic interval to a 16.2 cM region. Furthermore, comparison of mutant chromosomes in the two families has suggested a common ancestral mutant haplotype. This linkage disequilibrium has reduced the genetic interval encompassing the diseased gene to less than 9.5 cM maximum. Further study of additional families from the same geographic area will hopefully reduce the genetic interval as well as help in the cloning of the gene involved in this rare disorder.

L. Baala, S. Hadj Rabia, J. Zlotogora, , K. Kabbaj, H. Chhoul, A. Munnich, S. Lyonnet, and A. Sefiani.

Both Recessive and Dominant Forms of Anhidrotic/Hypohidrotic Ectodermal Dysplasia Map to Chromosome 2q11-q13.
Am  J Hum Genet 1999 64:651-653
Abstract:

Ectodermal dysplasias (EDs) are a group of conditions characterized by the abnormal development of ectodermal-derived structures including teeth, hair, and eccrine sweat glands. EDs may be either isolated or associated with other clinical manifestations. Hitherto, >100 ED syndromes have been delineated (Freire-Maia and Pinheiro 1988). Whereas the X-linked form of anhidrotic/hypohidrotic ED is well characterized (MIM 305100), the existence of autosomal dominant (MIM 129490) or recessive forms (MIM 224900) has long been discussed. Partial resolution of this controversy was provided when an autosomal dominant form of hypohidrotic ED in a six-generation family was mapped to chromosome 2q11-q13 (Ho et al. 1998). Clinical features included smooth dry skin, hypotrichosis, decreased sweating, and dental anomalies in most affected individuals in that family. The existence of autosomal recessive anhidrotic/hypohidrotic ED is supported by the occurrence of the disease in several families, including a large inbred Moroccan kindred (Munoz et al. 1997; Kabbaj et al. 1998). Here we show that a gene for autosomal recessive ED maps to 2q11-q13, suggesting that dominant and recessive ED may be allelic disorders.

Kabbaj K, Baala L, Chhoul H, Sefiani A.

Autosomal recessive anhidrotic ectodermal dysplasia in a large Moroccan family.
J Med Genet. 1998 Dec; 35(12): 1043-4.
Abstract:

We studied a large Moroccan family in which anhidrotic ectodermal dysplasia is transmitted as an autosomal recessive trait. Fourteen family members, both males and females, were affected and they all had a common ancestor. Linkage analysis by homozygosity mapping in this family has permitted the gene localisation of this rare form of anhidrotic ectodermal dysplasia.

Brandt-casadevall C., F. Taroni, N. Dimo-simonin, L. Baala, A. Sefiani, P. Mangin.
Moroccan population alleles frequency on 9 PCR-based loci.
Forensic genetics 2000 8: 221-223

L. Baala, A. Lossos, R. Touraine, O. Gribouval; A. Pelet, S. Hadj-Rabia ,A. Sefiani, A. Munnich, J. Zlotogora S. Lyonnet.
Homozygosity mapping of a locus for autosomal recessive external ophthalmoplegia to chromosome 17p12-p13.1
In press.

Z. Jerboui, A. Zellou, B. El Azzaoui, A. Taimi, L. Ouaffak, B. Zaim, F. Hassouni et M. Lyagoubi.

Les champignons pathogènes dans les bains maures. Enquête sur la flore fongique de 33 hammams de Rabat.
Espérance  Médicale, 2003, 10, 94: 285-290.
Résumé:

Dans ce travail, les auteurs ont réalisé une étude sur la flore fongique du sol des bains maures de Rabat. Ils passent en revue les facteurs favorisants ces infections et ils évaluent les risques auxquels sont exposés les usagers, en particulier les infections fongiques. Ils proposent aussi les principales mesures préventifs pour y pallier.

Bruno Moulard, Abdelaziz Sefiani, Aboubakr Laamri, Alain Malafosse, William Camu
Apolipoprotein E genotyping in sporadic amyotrophic lateral sclerosis : evidence for a major influence on the clinical presentation and prognosis.
Journal of the Neurological Sciences 139 (Suppl.) (1996) 34-37.
Abstract:
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative motor neuron disorder of unknown etiology. Recently, , in Alzheimer's disease (AD) apolipoprotein E (APOE) alleles have been shown to play an important role in disease phenotype. To determine whether APOE have a similar influence in other neurodegenerative disorders, we studied APOE genotypes in 130 sporadic ALS patients, compared with controls. We also analysed APOE genotypes regarding ALS clinical criteria. The frequency of APOE genotypes was not different between ALS and controls. However, subjects with the APOE2/E3 genotype showed a significantly longer duration of the disease: 51 months vs. 28.5 for APOE3/E3 and 27.5 for APOE3/E4 (p = 0.001 and p = 0.02, respectively). There was a significantly higher proportion of bulbar ALS patients in the APOE3/E4 group (72 % of the cases), whereas 90 % of patients in the APOE2/E3 group showed limb onset (p = 0.01). in the bulbar group, patients with APOE4 showed earlier onset of the disease : 60 vs. 66 years (mean age, p = 0.05). these results are consistent with a protective role of APOE2 and a deleterious role of APOE4 in ALS as already found for AD. This parallel supports the idea of a general role of APOE in neuronal degeneration or regeneration rather than a specific role in ALS or AD etiopathogenesis.
Keywords : Amyotrophic lateral sclerosis ; Apolipoprotein E ; Clinical criterion

A. Laamri, L. Bouchara, S. Abir-Khalil, A. Sefiani
Étude du polymorphisme I/D du gène de l'enzyme de conversion de l'angiotensine chez des hypertendus marocains : a propos de 72 cas.
Espérance Médicale. Octobre 1999. Tome 6. N° 54
Résumé:
L'enzyme de conversion de l'angiotensine (ECA) montre une variation génétique liée à un polymorphisme insertion/délétion (I/D) dans le seizième intron du gène ECA. Nous avons analysé ce polymorphisme par amplification génique chez 72 patients hypertendus et 60 individus normotendus. Les fréquences des allèles et des génotypes du polymorphisme ECA/DI sont identiques dans les deux groupes.
Le polymorphisme ECA/DI du gène ECA ne semble pas être impliqué dans l'hypertension artérielle chez nos patients.

Elharti E, ElAouad R, Amzazi S, Himmich H, Elhachimi Z, Apetrei C, Gluckman JC and Benjouad A.

HIV diversity in Morocco.

AIDS, Vol. 11 N°14, 1997 : 781-1783

Mengad R, Sadki K, Siwani A., Barkia A, Lamrani A, Saddak A, ELAouad R.

Production of direct agglutination test ( DAT) antigen and seroprevalence of visceral Leishmaniosis in northern Morocco.

Giornale Italiano Di MedicinaTropicale.Vol3, N3-4, 1998.

Elharti E, Elaouad R, Simons M.J, Elhachimi. Z, Gluckman JC, Parmentier M and Benjouad A.

Frequency of CCR5 Delta 32 allele in Morocco.

AIDS Research and Human Retroviruses, Vol. 16, 2000 : 87-89.

Elharti E, Safir N, Bennani O, Mengad R, Siwani A and ElAouad R.

HIV epidemiology in Morocco: a 9 years study (1991-1999).

International Journal of STD and AIDS, 2002, 13 : 839-842.

Elharti E, Zidouh A, Mengad R, Bennani O and ElAouad R.

Monitoring HIV sentinel surveillance in Morocco.

Eastern Mediterranean Health Journal, Vol 8, No1, 2002.

Elharti E et al.

Result of HIV sentinel surveillance in Morocco during 2001.

XIVth World Conference on AIDS, Barcelona, 2002

Elharti E, Alami M, Khattabi H, Bennani A, Zidouh, Benjouad A and ElAouad R.

Some characteristics of the HIV epidemic in Morocco.

Eastern Mediterranean Health Journal (in press).

Elharti.E, Zidouh.A, Khattabi.H, Safir N., Mahjour. J and ElAouad R.

HIV sentinel surveillance in Morocco.

XXth International Symposium on HIV, Leukemia and Opportunistic cancers, Marrakech, 1999.

Elharti.E, Sadki K, ElAouad.R.

Cost-effectiveness of HIV testing in Morocco.

XIIth World Conference on AIDS, Geneva, 1998.

Elharti.E, Mengad R., Bennani O., Safir. N, Siwani A. et ElAouad R.

Évolution de l'infection VIH au Maroc.

XXVIIème Congrès Médical Maghrébin, Casablanca, 1998.