Syndrome de klinefelter et conseil génétique

Klinefelter’s syndrome is a common sex chromosomal aberration generally characterized by hypergonadotrophic hypogonadism and azoospermia. However, spermatogenesis impairment is variable and severe oligozoospermia can be found in some men, particularly those exhibiting a mosaic karyotype 47,XXY/ 46,XY. New reproductive technologies, such as intracytoplasmic sperm injection (ICSI), allow Klinefelter patients to have a progeny, even those who are azoospermic after testicular sperm recovery. The question therefore arises of whether or not there is a genetic risk for pregnancies from affected fathers. Sperm karyotyping, by in vitro penetration of zona-free hamster eggs or by fluorescence in-situ hybridization (FISH), is a method of choice for measuring aneuploidy rate in spermatozoa of patients carrying gonosomal abnormalities. A theoretical model would predict a high level of 24,XX and/or 24,XY disomic sperm cells in Klinefelter patients if 47,XXY spermatogonia were able to complete meiosis and achieve spermatogenesis. Interestingly, current observations show that the rate of abnormal spermatozoa in these patients is low, around 1–2%, which indicates that only 46,XY spermatogonia can produce mature sperm cells and that oligozoospermic Klinefelter patients probably carry a 47,XXY / 46,XY mosaicism, at least at the testicular level. However, this low but statistically significant level of disomic spermatozoa emphasizes the fact that their spermatogenesis occurs in a compromised environment which could increase the risk of meiotic errors. Therefore, the possible occurrence of autosomal aneuploidies in children born from Klinefelter fathers leads to the following recommendations: a) individual analysis by FISH of the sperm aneuploidy rate in each Klinefelter patient candidate for ICSI; b) proposal of fetal karyotyping after amniocentesis in pregnancies obtained by this technique.     

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.     

L'histogenèse régénératrice chez les phoronidiens

Summary The regeneration (organogenesis was studied by Emig, 1972 a, b) of Phoronida can be divided into three phases: the first one, cicatrisation, is characterized by a provisional mesodermal scar-tissue, later the old epidermis cover this scar-tissue. The regenerating blastema, second phase, takes place by cellular dedifferentiation processes; each germ layer (ectoderm, mesoderm, endoderm) regenerates itself from its own elements. One exception only seems to be oesophagel regeneration by metaplasia of the prestomacal cells during the asexual reproduction. The differentiation of the amputated structures (third phase) appears submitted to the inductive influence of the mesoderm and to the trophic action of the nervous system (especially the epithelial plexus). The polarity in regeneration sets a problem in Phoronida.

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Ce travail a été effectué dans le cadre du contrat L. A. n 41 au C. N. R. S.     

Sur la loi logistique et ses généralisations

Sans résumé     

Le syndrome de kallmann de morsier aspect génétique

Kallmann syndrome (KS) is a rare, heterogeneous disorder consisting of congenital hypogonadotropic hypogonadism, associated with anosmia (or hyposmia) and other clinical manifestations such as mirror movements, and renal, urological and neurosensory disorders. The presence of anosmia with micropenis in boys is suggestive of the diagnostic of KS. In KS, the GnRH neurons do not migrate correctly from the olfactory placode to the hypothalamus during development and olfactory bulbs also fail to form, leading to anosmia. Mutations in KAL1 which encodes Anosmin-1, are responsible for the X-linked form of KS. Anosmin-1 is normally expressed in the brain, facial mesenchyme, mesonephros and metanephros. It is required to promote migration of GnRH neurons into the hypothalamus. It also allows migration of olfactory neurons from the olfactory bulbs to the hypothalamus. The loss of function mutations in FGFR1 “fibroblast growth factor” were identified in 2003 as a cause of autosomal forms of this disease. An additional autosomal cause of Kallmann syndrome was recently identified by a mutation in the prokineticin receptor-2 gene (PROKR2) (KAL-3) and its ligand prokineticin 2 (PROK2) (KAL-4). Mutations in these genes induce various degrees of olfactory and reproductive dysfunction, but not the other symptoms seen in KAL-1 and KAL-2 forms of KS. Neuropilin2, which has an important role in migration of GnRH neurons, is a recent candidate gene for KS. The authors describe the genetic features and recent findings of KS, necessary to understand this disease.     

Les néoblastes dans la régénération antérieure deDendrocoelum lacteum,Turbellarié triclade

Résumé Les néoblastes de la région postérieure du corps de la PlanaireD. lacteum ont les mêmes propriétés migratrices et histogénétiques que les néoblastes de la région prépharyngienne. En cas de section transversale à quelque niveau que ce soit, les néoblastes du fragment postérieur se déplacent d'arrière en avant pour s'accumuler en un bourgeon de régénération normal. Mais la différenciation de ces cellules ne se produit qu'en cas de section nettement antérieure à la racine du pharynx (alors il y a régénération). Après une section postérieure à la racine du pharynx, les néoblastes dégénèrent.

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Neoblasts in the anterior regeneration ofDendrocoelum lacteum, Turbellaria tricladida

Summary Neoblasts of the posterior region of the body in the PlanarianD. lacteum have the same migratory and histogenetic properties as neoblasts of the prepharyngeal region. With transverse cuts at whatever level, neoblasts of the posterior fragment migrate forward to accumulate as a normal regeneration bud. But differentiation of these cells only occurs in ease of a section clearly anterior to the root of the pharynx (regeneration then follows). After a transection posterior to this level, the neoblasts degenerate.