Techniques de recherche des polymorphismes génétiques

Sequencing the human genome has allowed the discovery of millions of DNA sequence variants. Sequence variations in human DNA are mainly present asSingle Nucleotide Polymorphisms (SNPs); this common form of variation is found about once every 1,000 bases in the human genome and 1.8 million SNPs have now been identified and located. The accessibility of databases of SNPs opens the possibility of studying the influence of these polymorphisms on disease risks as well as on drug responses. Numerous approaches have been set up for the identification of SNPs. In this review we describe the main techniques used for the identification of these polymorphisms. They rely on two major consequences of sequence variations: the apparition or the disappearance of restriction enzyme sites or the alteration of DNA strand hybridization due to the presence of a mismatch. Southern blotting and restriction endonucleases have allowed the development of the technique ofrestriction fragment length polymorphisms (RFLPs), now performed on PCR products. Several other approaches such as denaturing high-performance liquid chromatography or real-time PCR can detect allele differences upon re-hybridization and heteroduplex formation. However, DNA sequencing remains the obligate step for the positive identification of known or unknown SNPs. At last, the development of high-throughput methods allows a large increase in the rate of discovery of SNPs likely.     

Le cancer du testicule : facteurs de risque génétiques et environnementaux

The incidence of testicular cancer (TC) has a distinct geographic distribution but is increasing in most countries, including France. The most likely origin of TC is a lack of normal germ cell differentiation in the foetal testis. The maintained immature germ cells could proliferate after puberty to induce testicular tumor. Because of its frequent association with cryptorchidism and infertility, TC could be part of the testicular dysgenesis syndrome. The role of genetic factors is suggested by the frequency of familial TC cases, but no responsible gene has been clearly identified until now. Among the various studied genes, those regulating the KITLG/KIT pathway involved in primordial germ cell proliferation seem to play an important role. Studies made in immigrants and twins suggest the influence of environmental factors on the origin of TC. Hormonal deregulation occurring during prenatal life or puberty could facilitate the development of TC. However, the role of exogenous substances acting as endocrine disruptors has not been demonstrated yet.     

Palynologie des variants androgénétiques de Nicotiana plumbaginifolia (Solanaceae)

L'examen des grains de pollen de variants androgénétiques de Nicotiana plumbaginifolia a permis d'aborder une nouvelle approche de la variabilité des plantes cultivées in vitro. En plus de la morphométrie et de la MEB, techniques classiquement utilisées en palynologie, la mise en oeuvre de la spectrométrie X à sélection d'énergie et de la microfluorométrie de la sporopollénine, a permis de mettre en évidence des différences intraspécifiques très importantes pouvant aider à la compréhension de l'installation de la variation somaclonale.

Pollen grains of androgenetic variants of Nicotiana plumbaginifolia were studied using classical methods in palynology (morphometry, SEM) and by energy dispersive X-ray spectrometry or microfluorometry of sporopollenin can allow a new advance in variability studies in conjunction with in vitro plant production. It is also more interesting to study possible relationships between palynological parameters and ploidy level.     

Structures génétiques comparées de trois espèces de rongeurs africains du genre Mastomys au Sénégal

Résumé Une analyse par électrophorèse des protéines à 20 locus a été réalisée sur trois espèces du genre Mastomys au Sénégal. Malgré l'absence de locus diagnostique, une approche multivariée par analyses factorielles (AFC et AFD) permet néanmoins de reconnaître de façon sûre une des espèces en présence (M. cf. natalensis, 100% d'individus bien classés par l'AFD) et d'attribuer correctement les individus des deux autres espèces (M. erythroleucus et M. huberti) dans 92% et 77% des cas respectivement. Bien qu'écologiquement nettement différenciées, ces deux dernières espèces apparaissent très proches génétiquement (D_Nei=0,12) et montrent par ailleurs de hétérozygoties très elevées. Les faibles distances génétiques entre les trois espèces contrastent avec la forte différenciation chromosomique observée par ailleurs. Chez M. erythroleucus et M. huberti, les distances génétiques observées entre populations continentales ne sont pas corrélées avec les distances géographiques alors que les populations insulaires présentent une nette baisse de variabilité, en relation probable avec leur isolement géographique important. Par ailleurs, chez M. huberti, plusieurs populations s'écartent fortement de la panmixie. Ces tensions génétiques pourraient résulter de phénomènes d'introgression avec M. erythroleucus.

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Compared genetic structures of three species of African rodents of the genus Mastomys from Senegal. A protein electrophoresis analysis at 20 loci was performed on three species of the genus Mastomys from Senegal. Although no diagnostic locus was found between the three species, they can be readily recognized by multivariate analysis (100% of the M. cf. natalensis, 92% of the M. erythroleucus and 77% of the M. huberti individuals could be correctly classified by discriminant analysis). Although ecologically quite clearly differentiated, M. erythroleucus and M. huberti were found to be genetically very close (D_Nei=0.12) and display very high heterozygosities. On the whole, the small genetic distances between the three species contrast with the high chromosomal differentiation that has been reported in another study. In M. erythroleucus and M. huberti, genetic distances between mainland populations are not correlated with geographic distances, whereas insular populations show an important decrease of variability probably linked with their geographic isolation. In M. huberti, some populations show a strong departure from panmictic equilibrium: these genetical tensions could result from introgression phenomena with M. erythroleucus.