Biochemistry Department, Genetic Engineering and Biotechnology Research Division, National Research Centre, Dokki, Giza, Egypt.
High Throughput Molecular and Genetic Laboratory, Center for Excellences for Advanced Sciences, National Research Centre, Dokki, Giza, Egypt.
Arch Physiol Biochem. 2022 Jun;128(3):809-817. doi: 10.1080/13813455.2020.1729814. Epub 2020 Feb 26.
Germ line mutations of and were correlated with a variety of cancer Authors aimed to use next-generation sequencing (NGS) to detect and germ line mutations in glioblastoma multiform (GBM) Egyptian patients.
Genomic DNA was extracted from six GBM cases, amplified using Ion AmpliSeq and panel. DNA libraries were pooled, barcoded and finally sequenced using Ion Torrent Personal Genome Machine sequencer.
the previously reported rs1799966, rs1799950, rs16941 were found in five cases and they are in a linkage disequilibrium forming two distinct haplotypes, which might support their role in cancer predisposition. Out of the 18 reported variants in , three mutations were detected which leads to frame shift.
Further studies on large number of GBM patients and control cases to determine and germline mutations and haplotypes; diagnostic and prognostic role are encouraged.
和的种系突变与多种癌症相关。作者旨在使用下一代测序（NGS）检测埃及胶质母细胞瘤多形性（GBM）患者的和种系突变。
从 6 例 GBM 病例中提取基因组 DNA，使用 Ion AmpliSeq 和 panel 进行扩增。将 DNA 文库混合、标记，最后使用 Ion Torrent Personal Genome Machine 测序仪进行测序。
在五个病例中发现了先前报道的 rs1799966、rs1799950 和 rs16941，它们处于连锁不平衡状态，形成两种不同的单倍型，这可能支持它们在癌症易感性中的作用。在报告的 18 种 中的变体中，检测到三种导致移码的 突变。
鼓励对大量 GBM 患者和对照病例进行进一步研究，以确定和种系突变和单倍型；诊断和预后作用。
