The authors isolated five single-copy X-specific probes from an X-enriched library. These probes were regionally localized on the X chromosome by using somatic hybrid cell lines obtained from patients carrying different X-autosome translocations. Three clones were located between Xq23 and Xq26, the two others were mapped between Xp21 and Xp11.2. Analyses with different restriction enzymes indicated that one of them detects a TaqI polymorphism with a polymorphism information content (PIC) of 0.28.
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Mol Cytogenet
July 2015
2nd Department of Pediatrics, Semmelweis University, Tűzoltó utca 7-9, 1094 Budapest, Hungary.
Background: Turner syndrome, a congenital condition that affects 1/2,500 births, results from absence or structural alteration of the second sex chromosome. Turner syndrome is usually associated with short stature, gonadal dysgenesis and variable dysmorphic features. The classical 45,X karyotype accounts approximately for half of all patients, the remainder exhibit mosaicism or structural abnormalities of the X chromosome.
View Article and Find Full Text PDFCytogenet Genome Res
November 2012
Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
Blarinomys breviceps possesses cryptic and burrowing habits with poorly documented genetics and life history traits. Due to its rarity, only a few specimens and DNA sequences have been deposited in collections worldwide. Here, we present the most comprehensive cytogenetic and molecular characterization of this rare genus.
View Article and Find Full Text PDFNucleus
March 2012
Biocenter, Department Biology II, Ludwig Maximilians University (LMU), Martinsried, Germany.
The active and inactive X (Xa;Xi) territory with its seemingly highly compacted Barr body in nuclei of female mammalian cells provide a key example for studies of structure/function relationships in homologous chromosomes with different functional properties. Here we used about 300 human X-specific large insert clones to generate probe sets, which target physically or functionally defined sub-chromosomal segments. We combined 3D multicolor FISH with quantitative 3D image analysis in order to compare the higher order organization in Xi-and Xa-territories in human diploid fibroblasts (HDFs) at various length scales ranging from about 50 Mb down to 1 Mb.
View Article and Find Full Text PDFGenet Mol Res
November 2010
Clinic of Hematology, Clinical Center of Serbia, Belgrade, Serbia.
Cytogenetic findings are reported for 31 female patients with Turner's syndrome. Chromosome studies were made from lymphocyte cultures. Non-mosaicism 45,X was demonstrated in 15 of these patients, whereas only three were apparently mosaic.
View Article and Find Full Text PDFAnaerobe
August 2010
Department of Biomedical Sciences, University of Bradford, UK.
A total of 107 antibiotic-resistant propionibacteria were isolated from the face of 102 Egyptian acne patients, dermatology staff and controls. Erythromycin-clindamycin-resistant propionibacteria were chosen to detect erm(X) gene and it was detected in 29 of 107 (27%) strains. However, just 7 strains had IS1249I, 3 of them had also Tn5432.
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