(AC) dinucleotide repeat polymorphism in intron 1 of human EGFR shows ethnic specificities and high evidence for association with breast cancer.

A polymorphic AC repeat in intron 1 of the EGFR gene was genotyped on 352 healthy individuals and 118 women with breast cancer sampled from the Kuwaiti and Tunisian populations. We compared allele frequencies in these populations with published data on various ethnic groups. We found very close similarity between Tunisian and Kuwaiti populations for both allelic and genotypic frequencies and in both control and patient groups. Our analysis revealed clear interethnic differences between populations; in Europeans, allele 16 occurred predominantly, whereas in Tunisia and Kuwait allele 17 was the most frequent and allele 20 predominated in Asians. One hundred twenty-three healthy women, matched with the 118 breast cancer patients, were used as controls to test for associations between AC repeat and cancer risk. Strong evidence for such an association was found for allele 18 when considered alone (chi2=27.04, corrected p=0.0000016, OR=3.94) or with longer alleles (>17 repeats) (chi2=20.21, p=0.0005, OR=2.30). This contrasts with Asian populations where allele 16 was identified as the risk allele, showing allele heterogeneity depending on ethnicity.

The WRKY Transcription Factor Family in Citrus: Valuable and Useful Candidate Genes for Citrus Breeding.

WRKY transcription factors belong to a large family of plant transcriptional regulators whose members have been reported to be involved in a wide range of biological roles including plant development, adaptation to environmental constraints and response to several diseases. However, little or poor information is available about WRKY's in Citrus. The recent release of completely assembled genomes sequences of Citrus sinensis and Citrus clementina and the availability of ESTs sequences from other citrus species allowed us to perform a genome survey for Citrus WRKY proteins. In the present study, we identified 100 WRKY members from C. sinensis (51), C. clementina (48) and Citrus unshiu (1), and analyzed their chromosomal distribution, gene structure, gene duplication, syntenic relation and phylogenetic analysis. A phylogenetic tree of 100 Citrus WRKY sequences with their orthologs from Arabidopsis has distinguished seven groups. The CsWRKY genes were distributed across all ten sweet orange chromosomes. A comprehensive approach and an integrative analysis of Citrus WRKY gene expression revealed variable profiles of expression within tissues and stress conditions indicating functional diversification. Thus, candidate Citrus WRKY genes have been proposed as potentially involved in fruit acidification, essential oil biosynthesis and abiotic/biotic stress tolerance. Our results provided essential prerequisites for further WRKY genes cloning and functional analysis with an aim of citrus crop improvement.

[Linkage disequilibrium in the human genome and its exploitation]. / Le déséquilibre de liaison dans le génome humain et son exploitation.

This present review gives an overview on Linkage disequilibrium (LD), its measures and its different utilizations in human genetics studies. In the first part, we provide a detailed and a simplified presentation focusing on the definition of LD, its measures and the major software for its evaluation. Thereafter, we describe and discuss the biological and evolutionary mechanisms which create, remodel, maintain or destroy LD in human population. Consensus has now emerged on the pattern of LD in the genome which has a block-like organization with block of high disequilibrium interrupted by recombination hotspots. However, no standard method exists for the determination of such blocks and, more importantly, for the identification of TagSNP. This would yield inconsistencies between different studies of the same genes, compromising the practical use of TagSNP in association studies. The ACE gene is used to illustrate this. Will it be possible to identify consensus TagSNP that could be used consistently in all populations for testing association of candidate genes in common diseases? What is the part of myth and reality in what is called "individualized medicine"? We conclude that further LD studies are needed to get clear insights into this matter.

[Melanotic progonoma in an infant. Apropos of a case]. / Le progonome mélanotique de l'enfant. A propos d'un cas.

The authors report one observation of a melanotic progonoma or melanotic neuroectodermal tumor of the infant. They remind the etiologic and pathogenic data of this rare affection. They insist on the neuroectodermal pathogenesis with embryologic, histologic, ultrastructural and histoenzymologic bases. The maxillary location is encountered in 70% of the cases, it is facial cervical in 90% of the cases. The evolution is considered as benign with chirurgical management but the review of the literature shows 6 definite malignant cases, therefore the malignancy would be 3.5%.

[Anomalies of the 1st branchial arch. Apropos of 3 cases]. / Les anomalies de la 1re fente branchiale. A propos de 3 observations.

The authors report three cases of first branchial cleft anomaly in three patients treated in O.R.L. Service of H. Thameur Hospital of Tunis. After an embryologic and a classification discussion, they expose the etiologic data and insist on the extreme rarity of these malformations (1-8% of the branchial abnormalities). To establish a positive diagnosis, some specific clinic data have to be known, so much the chirurgical management can be began. The operative difficulty is consecutive to the connection with the VII nerve

[Permanent constriction of the jaws due to an osteoma of the temporal muscle. Apropos of 2 cases]. / Constriction permanente des mâchoires due à un ostéome du muscle temporal. A propos de deux cas.

Authors report 2 cases of pseudoankylosis of the mandible secondary to myositis ossificans of the temporal muscle. Diagnostic workup is based on a clear history of trauma and clinic and X ray examinations. In the treatment of such a lesion the calcified part of the temporal muscle must be excised and an intraoral coronoidectomy performed to prevent further recurrence. Selected jaw exercises are useful too.

[Sports injuries of the face]. / Les traumas sportifs de la face.

Of 249 patients with facial injuries admitted to the Department of Stomatology and Maxillofacial Surgery, Hôpital Bel Air, Thionville, France, between 1981 and 1982, 45 (18%) were cases of injury from sporting activities. The particular characteristics of the latter lesions were their predominance in males, their increased seasonal frequency in spring and early summer, the high incidence of damage to the nasal pyramid and maxillomalar complex, and the fact that the most implicated sport was football (71% of cases). Whereas most accidents resulted in relatively minor lesions, three cases--including two from riding--involved severe, complex injuries comparable to those seen in certain car accidents. Findings in this series confirm the natural "bumper" property of the face. Emphasis is placed on the importance of well-conducted training, and the need to eliminate consideration of sport as a means for expressing aggressiveness that is not always possible in daily life.