PCR detection of the pKM.19/ScrfI RFLP (D7S23), a marker closely linked to the cystic fibrosis mutation

Source: Description: pKM-19 is a 1.0 kb EcoRI human genomic fragment inserted in pUC13, that detects a Scrfl (CC/NGG) RFLP (1, 2). We report here the primer sequences suitable for the detection of this RFLP by PCR...

Mspl restriction fragment length polymorphism near exon 10 of cystic fibrosis (CFTR) gene.

Source/Description: The probe used is a 98 bp fragment amplified by PCR from a cDNA clone of the CFTR gene or from genomic DNA corresponding to exon 10, using two primers from this exon (1)...

Scrfl restriction fragment length polymorphism at the D7S23 locus (probe pKM.19), closely linked to cystic fibrosis

Source/Description: pKM.19 is a 1.0 kb EcoRI genomic fragment in pUC13 (ref. 1,2). pPl was isolated independently but contains the same fragment as pKM.19 (ref. 3)...

Mutation analysis in cystic fibrosis

The article by Lemna et al. (Feb. 1 issue)1 furthers the evaluation of the ΔF508 mutation, which is associated with some cases of cystic fibrosis. Although its real effect may be to help in documenting the substantial clinical variation that can occur among persons who possess the same small genetic deletion, the finding has encouraged calls for general screening...

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens

Background: Congenital bilateral absence of the vas deferens (CBAVD) is a form of male infertility in which mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been identified. The molecular basis of CBAVD is not completely understood. Although patients with cystic fibrosis have mutations in both copies of the CFTR gene, most patients with CBAVD have mutations in only one copy of the gene. Methods: To investigate CBAVD at the molecular level, we have characterized the mutations in the CFTR gene in 102 patients with this condition. None had clinical manifestations of cystic fibrosis. We also analyzed a DNA variant (the 5T allele) in a noncoding region of CFTR that causes reduced levels of the normal CFTR protein. Parents of patients with cystic fibrosis, patients with types of infertility other than CBAVD, and normal subjects were studied as controls. Results: Nineteen of the 102 patients with CBAVD had mutations in both copies of the CFTR gene, and none of them had the 5T allele. Fifty-four patients had a mutation in one copy of CFTR, and 34 of them (63 percent) had the 5T allele in the other CFTR gene. In 29 patients no CFTR mutations were found, but 7 of them (24 percent) had the 5T allele. In contrast, the frequency of this allele in the general population was about 5 percent. Conclusions: Most patients with CBAVD have mutations in the CFTR gene. The combination of the 5T allele in one copy of the CFTR gene with a cystic fibrosis mutation in the other copy is the most common cause of CBAVD. The 5T allele mutation has a wide range of clinical presentations, occurring in patients with CBAVD or moderate forms of cystic fibrosis and in fertile men.

Educational innovation in large groups. Design of an experimental study implemented at the Polytechnic University of Madrid

The present paper shows de design of an experimental study conducted with large groups using educational innovation methodologies at the Polytechnic University of Madrid. Concretely, we have chosen the course titled "History and Politics of Sports" that belongs to the Physical Activity and Sport Science Degree. The selection of this course is because the syllabus is basically theoretical and there are four large groups of freshmen students who do not have previous experiences in a teaching-learning process based on educational innovation. It is hope that the results of this research can be extrapolated to other courses with similar characteristics.

Quines característiques hauria de tenir el perfil professional d'un/a professor/a d'educació física en la secundària?

L’objectiu que pretén aquest treball final de Grau en Ciències de l’Activitat Física i l’Esport, és fer una aproximació inicial a la caracterització dels professors d’Educació Física en la secundària i la identitat docent que se’n deriva per les característiques de l’alumnat d’aquesta etapa i d’organització de les matèries. Alhora pretén reflexionar sobre la importància dels elements relacionals i soci - emocionals que ha de conrear tot docent que treballa en les etapes de l’adolescència. Per aconseguir aquest objectiu he enquestat a diferents professors/es i, a una desena d’alumnes de cada professor/a per tal d’analitzar les diferents característiques de cadascú i identificar les més recurrents i/o més eficaces que defineixen a un/a bon/a professor/a de secundària. Després d’aquest anàlisi de contingut de les respostes dels alumnes i les enquestes i entrevistes dels propis professors/es, podem concloure que hi ha quatre variables importants a tenir en compte; el perfil personal, la metodologia que utilitza cada professor/a en les seves classes, la convivència amb el grup – classe i la societat i, la formació del professorat.

L'ús de les xarxes socials en activitats de promoció de l'activitat física en hospitals americans

En la present investigació s'analitzen catorze hospitals ubicats als Estats Units, amb l'objectiu d'analitzar l'ús de les xarxes socials, centrant-nos en la promoció que en realitzen de l'activitat física, a partir de les diferents xarxes socials.