Beyond human leukocyte antigen class i antigens: hereditary hemochromatosis gene mutations in recurrent aphthous oral ulcers and Behcet disease in the South of Tunisia

Objective: The aim of this work was to establish human leukocyte antigen [HLA] class I and hereditary hemochromatosis gene [HFE] mutation associations with recurrent aphthous oral ulcers [RAOU] and Behcet disease [BD] in a cohort of Southern Tunisian patients

Subjects and Methods: A total of 232 patients with RAOU and 123 healthy controls [HCs] were enrolled in this study. The patients were divided into 2 groups based on the presence [BD+: n = 62] or absence of BD [BD - , n = 170]. In the BD+ group, 28 patients had severe manifestations of BD. In the BD- group, RAOU was isolated in 81 patients, associated with mucocutaneous manifestations in 58 and with joint symptoms in 25. Complement-dependent microlymphocytotoxicity assay and polymerase chain reaction-restriction fragment length polymorphism were used to study HLA class I polymorphism and HFE mutations, respectively

Results: HLA-B51 was positively associated with BD, particularly in those with severe manifestations. No association was detected with HLA class I polymorphism among the BD group. Based on stratification to clinical manifestations, the isolated RAOU was negatively associated with HLA-A1 with a difference close to significance [12 [14.81%] vs. 32 [26.02%] in HCs; p = 0.06]. Furthermore, patients with mucocutaneous features had a higher frequency of HLA-B51 [14, 24.14%] than patients without mucocutaneous involvement [11, 11.37%]. Considering HFE mutations, patients with isolated RAOU had a higher frequency of H63D when compared with other subgroups, especially after limiting the comparison to 27 patients of at least 5 years of follow up

Conclusion: This study showed that, unlike BD, RAOU were not associated with HLA-B51. Moreover, we suggest that H63D mutation was positively associated with isolated RAOU

Application of victims' fingernails in Forensic DNA analysis.

DNA extracted from the victims’ fingernails may assist in the identification of the aggressor. Fingernails were collected from 8 victims, and were subjected to DNA extraction using the Kit « Tissue and Hair Extraction Kit (Promega) ». All samples were typed for 15 autosomal short tandem repeats and for amelogenin using the Kit « Powerplex TM16 system (Promega) » and the ABI Prism 310 DNA sequencer. The profiles obtained were compared with those achieved by similar typing of victims’ and suspects’ blood. In two Forensic investigations, mixed genotypes were detected in DNA extracted from the nails: Alleles originating from the victim were coamplified with other alleles that matched the suspect’s genotypic profile. This indicated that victims’ fingernails contained biological material (blood, epithelial cells) originating from the suspect. Our results confirmed the usefulness of the nails as a specimen for forensic identification of the aggressor.

HLA A, B, DR and DQ alleles study in Tunisian patients with atopic dermatitis

Background: Atopic dermatitis [AD] is a chronic inflammatory skin disease resulting from the interaction between envirommental and genetic factors. Many genes are involved in the etiopathology of AD, such as HLA genes

Objectives: Study the association between HLA-A, B, DR and DQ genes and the AD

Methods: HLA A and B genotyping were practised for 53 atopic dermatitis patients and 76 healthy controls using the microlymphotoxicity complement dependent technique, while HLA DR and DQ genetyping were practised for only 20 patients with AD and the controls by PCR-SSP method

Results: allelic frequency of HLA A32 was significantly increased in healthy individuals compared to patients affected with AD [p=0.02, RR=0.24]. HLA-B, DR and DQ showed no differences in distribution between patients and controls

Conclusion: Our study suggested that HLA-A32 could be a protective marker against atopic dermatitis for Tunisian patients, in contrast to HLA-B, DR and DQ alleles which seemed to have no importance in AD pathogenis

non reponse a la vaccination antihepatitique chez le personnel soignant

The authors report the results of an investigation of witness cases realized in collaboration between occupational medecine service and immunology laboratory of hedi CHAKER university hospital SFAX during the year 2000. the purpose was to seartch the genetic control of the HLA class l system for the non response to hepatitis B vaccine and to evaluate the contribution of other favorite factors as tabac, sex age. Thus, in a population of 32 healthy agents found nonresponders to hepatitis B vaccine by the titers of anti HBs antibody, we have performed the HLA-A, -B phenotypes by the technique of complement dependent microcytotoxicity. The frequency of studied HLA class l antigens, was compared for the non responders group, to the frequency observed in witnesses group, done with 52 responders health agents. The rate of nonresponsiveness hepatitis B vaccine was evaluated up to 5%. Statistically significant difference was observed for HLA A1 and B44 markers showing frequencies which were considerably higher in the non responders than in witnesses

Suivi clinique et biologique d'une famille a'haute prevalence de maladies auto- immunes thyroidiennes

We described the clinical and biological follow up of a large "Akr" family of 200 members. This family includes 40 subjects affected with thyroid autoimmune diseases including 18 cases of gravers' disease and 22 cases of Hashimoto's throiditis. The prevalence of thyroid autoimmune diseases in the family studied was enhanced from 16.9% in 1992 to 23.0% at the moment of this study. Tlie diagnosis of thyroid autoimmune diseases was evoked by the thyroid dysfonctionning clinical and biological symptoms. The follow up was based on the hormonal and immunological investigations undertaken by enzyme linked immunosorbent assay and immunofluorescence techniques. The hummoral immune responses directed against thyroglobulin and thyroperoxidase showed heterogeneous thyroid autoimmune profiles in 40 patients studied. All of the data available showed 15 new cases among the predisposed subjects of the "Akr" family and suggested a polygenic control of the thyroid autoimmune diseases