Detection and precise genomic mapping of balanced chromosomal abnormalities in patients with impaired fertility or a clinical phenotype represent a challenge for current cytogenomics owing to difficulties with precise breakpoint localization in the regions enriched for DNA repeats and high genomic variation in such regions. Here, we present a comprehensive cytogenomic approach to breakpoint mapping in a rare paracentric inversion on 10q (in a patient with oligoasthenoteratozoospermia and necrozoospermia) that does not affect other phenotype traits. Multicolor banding, chromosomal microarray analysis, chromosome microdissection with reverse painting, and single-copy sequencing of the rearranged chromosome were performed to determine the length and position of the inverted region as well as to rule out a genetic imbalance at the breakpoints.
View Article and Find Full Text PDFBull Exp Biol Med
February 2012
We developed a protocol of in vitro differentiation of human embryonic stem cells into three-dimensional structures histologically and molecularly similar to the developing retina.
View Article and Find Full Text PDFCytogenetic analysis of karyotypes of hESM01-hESM04 human embryonic stem cells and substrains derived from these strains showed that all these strains retained normal karyotype during long-term culturing. Two substrains of embryonic stem cells with chromosome aberrations indicating clonal origin of these strains were detected. The potentialities of using analysis of chromosome variability of embryonic stem cells for evaluation of predisposition of the corresponding genotypes to the formation of chromosome abnormalities are discussed.
View Article and Find Full Text PDFHere we present the results of fluorescent in situ hybridization (FISH) mapping of a set of cattle BAC clones preselected for assignment on cattle chromosome 19 (BTA19). The BAC clones were anchored to human chromosome 17 (HSA17) sequences by BLASTn similarity search of cattle BAC-ends against the human genome sequence (NCBI build 33). Five blocks of homologous synteny were defined in the comparative map of BTA19 and HSA17 built with FISH data and the human genome coordinates.
View Article and Find Full Text PDF