33 research outputs found
The commonest regions of genomic imbalances as revealed by CGH arrays in splenic marginal zone lymphoma (SMZL).
<p>The tree shows the chromosomal regions that exhibited gains (right) or losses (left). For each region, a corresponding cytogenetic location and the respective frequency of change within the cohort are provided.</p
Mapping of LOH in region 7q.
<p>(Left) Representation of human chromosome 7, including band assignments. (Right) Names of polymorphic markers used and chromosome band assignments. Four of the six patients analyzed (70, 71, 66 and 73) show LOH for one or more of the markers included in the region 7q22.1 (D7S662, D7S2536, D7S515).</p
Detailed analysis of the commonly deleted region at 7q22.1 by use of two different CGH arrays.
<p>Three cases showed loss in the region (43SMZL, 06SMZL and 14SMZL) between 99925039–101348479 bp (size 1.5 Mb), while the CGH array did not reveal any abnormality of the 7q22.1 region in the control SMZL (18SMZL). (Red, losses; green, gains; yellow, normal; blue, non-informative oligonucleotide hybridization). Figure 3C shows a close-up of a selected region, illustrating the loss on 7q22.1 in three SMZL patients.</p
Genetic analysis combined in cytoband 7q22.1 in splenic marginal zone lymphoma.
<p>Each method used to analyze the 7q22.1 region commonly deleted in the SMZL is represented by a separate colour. The green boxes correspond to losses detected by BAC mapping to this region; the blue, yellow and purple boxes represent the fragments of the chromosome 7q22.1 region in which losses were detected by commercial NimbleGen arrays. Black boxes show the losses observed with LOH. White boxes define the position of the BAC clones, oligonucleotides and markers of LOH that were not deleted in SMZL.</p
Microsatellites markers selected for the LOH analysis.
<p>Microsatellites markers selected for the LOH analysis.</p
BAC CGH array analysis of chromosome 7 from 68 patients with SMZL.
<p>Each patient is shown in columns while the location of the BAC clones is shown in rows. Red colour indicates the presence of a loss, while green indicates a gain of genomic material. Yellow represents a normal amount of DNA, and blue indicates a deficient hybridization. The common deleted region on 7q22.1 is shown in a red box.</p
Most representative deregulated cellular functions in RARS patients respect to the control group.
<p>Most representative deregulated cellular functions in RARS patients respect to the control group.</p
Most representative deregulated cellular functions in RARS patients respect to the RCUD group.
<p>Most representative deregulated cellular functions in RARS patients respect to the RCUD group.</p
Variation in the <i>ALAD</i> gene in a RARS case.
<p><b>(A)</b> New missense variation in the <i>ALAD</i> gene in the BM of one RARS patient found by massive sequencing. The variation is heterozygous and is located at Chr9: 116,152,735 position in exon 7. <b>(B)</b> Protein sequences from wild-type and RARS patient. Amino-acid change in the protein sequence of ALAD in a RARS patient. Arginine (R174) is replaced by cysteine y the mutant protein. (RARS: refractory anemia with ring sideroblasts)</p