کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2109751 1083886 2016 13 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Overview of recurrent chromosomal losses in retinoblastoma detected by low coverage next generation sequencing
ترجمه فارسی عنوان
بررسی اجمالی از تلفات کروموزوم های مجدد در رتینوبلاستوما که با استفاده از توالی نسل بعدی نسل بعدی تشخیص داده می شود
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی تحقیقات سرطان
چکیده انگلیسی

Genes are frequently lost or gained in malignant tumors and the analysis of these changes can be informative about the underlying tumor biology. Retinoblastoma is a pediatric intraocular malignancy, and since deletions in chromosome 13 have been described in this tumor, we performed genome wide sequencing with the Illumina platform to test whether recurrent losses could be detected in low coverage data from DNA pools of Rb cases. An in silico reference profile for each pool was created from the human genome sequence GRCh37p5; a chromosome integrity score and a graphics 40 Kb window analysis approach, allowed us to identify with high resolution previously reported non random recurrent losses in all chromosomes of these tumors. We also found a pattern of gains and losses associated to clear and dark cytogenetic bands respectively. We further analyze a pool of medulloblastoma and found a more stable genomic profile and previously reported losses in this tumor. This approach facilitates identification of recurrent deletions from many patients that may be biological relevant for tumor development.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Cancer Genetics - Volume 209, Issue 3, March 2016, Pages 57–69
نویسندگان
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