240 research outputs found
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 gÚnes
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 siÚcle. Il est maintenant
bien établi que cette population s'est caractérisée dÚs 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
rĂ©sultats de quelques enquĂȘtes de gĂ©nĂ©tique molĂ©culaire qui tendent plutĂŽt Ă accrĂ©diter
l'hypothĂšse contraire.
Ces données invitent à considérer sous un nouvel éclairage les modÚles
historiographiques rendant compte de la mise en place et de l'Ă©volution 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 300âkb. 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. âRemaking Eden. Cloning and beyond in a brave new world
De Braekeleer Marc. Silver L. M. âRemaking Eden. Cloning and beyond in a brave new world. In: Population, 55á” annĂ©e, 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, 55ᔠannée, n°3, 2000. pp. 629-630
Khoury M.J., Burke W.,Thomson E.J. â Genetics and public health in the 21 st century.Using genetic information to improve health and prevent disease
De Braekeleer Marc. Khoury M.J., Burke W.,Thomson E.J. â Genetics and public health in the 21 st century.Using genetic information to improve health and prevent disease. In: Population, 56á” annĂ©e, n°4, 2001. pp. 674-676
Silver L. M. âRemaking Eden. Cloning and beyond in a brave new world
De Braekeleer Marc. Silver L. M. âRemaking Eden. Cloning and beyond in a brave new world. In: Population, 55á” annĂ©e, n°3, 2000. pp. 631-633
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