t(12;13)(p13;q12) ETV6/FLT3

Review on t(12;13)(p13;q12) ETV6/FLT3 , with data on DNA, on the protein encoded, and where the gene is implicated

Homogénéité ou diversité? L'histoire de la population du Québec revue à travers ses gènes

The present study uses the most recent results from research in molecular genetics to put into new perspectives some interpretations of the history of the francophone population of Quebec since the 17th century. It is now well known that since its origins, this population, as a whole, was characterized by a significant degree of cultural homogeneity (language, religion, etc.). Progressively, the common wisdom came to presume that this population was also biologically homogeneous, this view allegedly being supported by the high incidence of a few hereditary disorders, some of them quite specific to the French-Canadian population. However, such hypothesis is not corroborated by the results of the molecular studies conducted so far. On the contrary, it appears that this population is genetically diversified. These results call for a re-examination ofthe historiographical models accounting for the origins and the evolution ofthe French-speaking population of Quebec.Cet article prend à témoin les résultats les plus récents des recherches de génétique moléculaire au Québec pour situer dans une nouvelle perspective quelques interprétations de l'histoire de la population francophone québécoise depuis le 17e siècle. Il est maintenant bien établi que cette population s'est caractérisée dès le départ par de forts éléments d'homogénéité sous le rapport de la culture (langue, religion, coutumes...). Peu à peu, l'opinion courante en a inféré une présomption d'homogénéité biologique que semblait valider la forte incidence de certaines maladies héréditaires spécifiques à la population canadienne-française. Cette présomption est toutefois démentie par les résultats de quelques enquêtes de génétique moléculaire qui tendent plutôt à accréditer l'hypothèse contraire. Ces données invitent à considérer sous un nouvel éclairage les modèles historiographiques rendant compte de la mise en place et de l'évolution de la population francophone du Québec

Using Bacterial Artificial Chromosomes in Leukemia Research: The Experience at the University Cytogenetics Laboratory in Brest, France

The development of the bacterial artificial chromosome (BAC) system was driven in part by the human genome project in order to construct genomic DNA libraries and physical maps for genomic sequencing. The availability of BAC clones has become a valuable tool for identifying cancer genes. We report here our experience in identifying genes located at breakpoints of chromosomal rearrangements and in defining the size and boundaries of deletions in hematological diseases. The methodology used in our laboratory consists of a three-step approach using conventional cytogenetics followed by FISH with commercial probes, then BAC clones. One limitation to the BAC system is that it can only accommodate inserts of up to 300 kb. As a consequence, analyzing the extent of deletions requires a large amount of material. Array comparative genomic hybridization (array-CGH) using a BAC/PAC system can be an alternative. However, this technique has limitations also, and it cannot be used to identify candidate genes at breakpoints of chromosomal rearrangements such as translocations, insertions, and inversions

t(2;9)(q12;q34) RANBP2/ABL1

Review on t(2;9)(q12;q34), with data on clinics, and the genes involved

NRAS Q61R , BRAF V600E immunohistochemistry: a concomitant tool for mutation screening in melanomas

International audienceThe determination of NRAS and BRAF mutation status is a major requirement in the treatment of patients with metastatic melanoma. Mutation specific antibodies against NRAS(Q61R) and BRAF(V600E) proteins could offer additional data on tumor heterogeneity. The specificity and sensitivity of NRAS(Q61R) immunohistochemistry have recently been reported excellent. We aimed to determine the utility of immunohistochemistry using SP174 anti-NRAS(Q61R) and VE1 anti-BRAF(V600E) antibodies in the theranostic mutation screening of melanomas. 142 formalin-fixed paraffin-embedded melanoma samples from 79 patients were analyzed using pyrosequencing and immunohistochemistry. 23 and 26 patients were concluded to have a NRAS-mutated or a BRAF-mutated melanoma respectively. The 23 NRAS (Q61R) and 23 BRAF (V600E) -mutant samples with pyrosequencing were all positive in immunohistochemistry with SP174 antibody and VE1 antibody respectively, without any false negative. Proportions and intensities of staining were varied. Other NRAS (Q61L) , NRAS (Q61K) , BRAF (V600K) and BRAF (V600R) mutants were negative in immunohistochemistry. 6 single cases were immunostained but identified as wild-type using pyrosequencing (1 with SP174 and 5 with VE1). 4/38 patients with multiple samples presented molecular discordant data. Technical limitations are discussed to explain those discrepancies. Anyway we could not rule out real tumor heterogeneity. In our study, we showed that combining immunohistochemistry analysis targeting NRAS(Q61R) and BRAF(V600E) proteins with molecular analysis was a reliable theranostic tool to face challenging samples of melanoma

Silver L. M. —Remaking Eden. Cloning and beyond in a brave new world

De Braekeleer Marc. Silver L. M. —Remaking Eden. Cloning and beyond in a brave new world. In: Population, 55ᵉ année, n°3, 2000. pp. 631-633

Kolata G. Clone. The road to Dolly and the path ahead

De Braekeleer Marc. Kolata G. Clone. The road to Dolly and the path ahead. In: Population, 55ᵉ année, n°3, 2000. pp. 629-630

Silver L. M. —Remaking Eden. Cloning and beyond in a brave new world

De Braekeleer Marc. Silver L. M. —Remaking Eden. Cloning and beyond in a brave new world. In: Population, 55ᵉ année, n°3, 2000. pp. 631-633

Bocquet-Appel Jean-Pierre,Courgeau Daniel, Pumain Denise — Analyse spatiale des données biodémographiques

De Braekeleer Marc. Bocquet-Appel Jean-Pierre,Courgeau Daniel, Pumain Denise — Analyse spatiale des données biodémographiques. In: Population, 53ᵉ année, n°5, 1998. p. 1046