نتایج جستجو برای: deletion 6q
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In this study, we have elucidated the chromosomal imbalances in the multistep pathogenesis and delineated several critical tumor suppressor gene (TSG) loci in multiple myeloma (MM). By using comparative genomic hybridization, allelotyping, and multicolor interphase fluorescence in situ hybridization, 5 MM cell lines and bone marrow CD138+ plasma cells from 88 Chinese patients with monoclonal ga...
Polymorphous low-grade adenocarcinoma (PLGA) is a malignancy predominantly originating from the minor salivary glands. The molecular events underlying the pathogenesis of PLGA is poorly understood and no recurrent genetic aberrations have so far been identified. We used genome-wide, high-resolution aCGH analysis to explore genomic imbalances in 9 ...
We report chromosome abnormalities in 15 cases of T cell prolymphocytic leukemia (T-PLL). All cases were characterized by clinical, morphological, and membrane marker analysis. The most frequent abnormality was an inv(14)(q11q32) observed in nine cases. The T cell receptor (TCR) alpha chain gene is localized to 14q11 and the immunoglobulin heavy-chain gene to region 14q32. Four cases also had t...
Waldenström macroglobulinemia (WM) is a B-cell malignancy characterized by the ability of the B-cell clone to differentiate into plasma cells. Although the clinical syndrome and the pathologic characteristics are well defined, little is known about its biology and controversy still exists regarding its cell of origin. In this gene-expression study, we compared the transcription profiles of WM w...
Congenital heart defects (CHDs) are the most common major developmental anomalies and the most frequent cause for perinatal mortality, but their etiology remains often obscure. We identified a locus for CHDs on 6q24-q25. Genotype-phenotype correlations in 12 patients carrying a chromosomal deletion on 6q delineated a critical 850 kb region on 6q25.1 harboring five genes. Bioinformatics prioriti...
Comparative genomic hybridization was used to screen 25 adenocarcinomas and 25 squamous cell carcinomas of the lung for chromosomal imbalances. DNA copy number decreases common to both entities were observed on chromosomes 1p, 3p, 4q, 5q, 6q, 8p, 9p, 13q, 18q, and 21q. Similarly, DNA gains were observed for chromosomes 5p, 8q, 11q13, 16p, 17q, and 19q. Adenocarcinomas showed more frequently DNA...
To provide better insight into the genetic signatures of neuroblastomas, we analyzed 500 neuroblastomas (included specimens from JNBSG) using targeted-deep sequencing for 10 neuroblastoma-related genes and SNP arrays analysis. ALK expression was evaluated using immunohistochemical analysis in 259 samples. Based on genetic alterations, the following 6 subgroups were identified: groups A (ALK abn...
angiotensin i-converting enzyme (ace) gene polymorphism; genotype dd or d allele may be involved with an increased susceptibility to type 2 diabetes and diabetic nephropathy (dn). we examined the frequency of ace gene polymorphism in 170 patients (85 type 2 diabetes with nephropathy and 85 without it) in tehran, iran. dna was extracted from the white blood cells and the i/d polymorphism of the ...
a 9 bp deletion between cytochrome oxidase subunit ii and trna lys genes in mitochondrial dna, has proven to be an extremely informative marker for tracing population history. using the pcr-page and pcr-sscp techniques in this study, 152 dna samples collected from iranian populations were screened for the 9 bp deletion. no deletion was observed. a length polymorphism, most probably a 9 bp tripl...
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