Anàlisi citogenètica molecular i immunocitogenètica de l'espermatogènesi en individus infèrtils: aplicació al consell genètic

Recent studies indicate that patient infertile can present an increment of espermatozoides aneuploidy and that this incident you can be reflection of different degrees of affectation of the process meiotic. A possible hypothesis is that these anomalies be due to a reduction in the degree of recombination and to anomalies of the matching synaptic that produce blockade meiotic and not disjunction of bivalentes chromosomal and that at the same time they cause oligozooespermia and increment of espermatozoides with anomalies chromosomal numerical. Up to now, are very scarce the studies of the boss of recombinación in fertile individuals and do not exist in infertile individuals. Ultimately, techniques have been described that combine the immunocytogenetic with the analysis cytogenetic molecular and that are a new and powerful form to detect points of recombination in extensions of bivalents in profase I. We propose ourselves to study the process of recombination meiotic and the matching in espermatocitos of infertile individuals to determine if present modifications of the boss of recombination and alterations of the matching synaptic in order to verifying the hypothesis before indicated. For it we will apply a technical one immunocytogenetic for the detection of MLH1 in espermatocitos that will permit to determine the frequency of points of recombination. The specific distribution for each one of the 23 complex synaptonemics will be carried out with FISH of you probe chromosomal, especially by means of the adaptation to extensions of complex synaptonemics of a new method of FISH multicolored (cenm FISH) which will permit the simultaneous identification of all the centromers in the espermatocitos to the ones that previously have been detected them the points of recombination.