【正文】 erous and noncancerous samples using a Kras mutation (codon 12 GGT GG/AT) 腫瘤相關(guān)基因的鑒定和定量分析 基因甲基化分析 ? 在許多基因調(diào)控區(qū)域，有一種稱為 CG島的結(jié)構(gòu)，其中 GC含量較高，其序列的基本單元為 CpG的二聚核苷酸。 P = , OR ). Testing of additional SNPs 539。53(4):113440. Related Articles, Links – A mon polymorphism in the upstream promoter region of the hepatocyte nuclear factor4 alpha gene on chromosome 20q is associated with type 2 diabetes and appears to contribute to the evidence for linkage in an ashkenazi jewish population. LoveGregory LD, Wasson J, Ma J, Jin CH, Glaser B, Suarez BK, Permutt MA. Division of Endocrinology, Diabetes and Metabolism, Washington University School of Medicine, St. Louis, Missouri 63110, USA. Variants in hepatocyte nuclear factor4 alpha (HNF4 alpha), a transcription factor that influences the expression of glucose metabolic genes, have been correlated with maturityonset diabetes of the young, a monogenic form of diabetes. Previously, in a genome scan of Ashkenazi Jewish type 2 diabetic families, we observed linkage to the chromosome 20q region enpassing HNF4 alpha. Here, haplotypetag single nucleotide polymorphisms (htSNPs) were identified across a 78kb region around HNF4 alpha and evaluated in an association analysis of Ashkenazi Jewish type 2 diabetic (n = 275) and control (n = 342) subjects. We found that two of nine htSNPs were associated with type 2 diabetes: a 339。 967: 258 264. SNP Diabetes Association study USA Arkansas Wang H, Chu W, Das SK, Ren Q, Hasstedt SJ, Elbein SC. Liver Pyruvate Kinase Polymorphisms Are Associated With Type 2 Diabetes in Northern European Caucasians. Diabetes, Sep 2022。 286: 1 7. SNP Diabetes Association study USA Massachusetts Memisoglu A, Hu FB, Hankinson SE, Liu S, Meigs JB, Altshuler DM, Hunter DJ, Manson JE. Prospective Study of the Association Between the Proline to Alanine Codon 12 Polymorphism in the PPAR Gene and Type 2 Diabetes. Diabetes Care, Oct 2022。 Umbria Type 1 Diabetes Registry. Lack of association of CCR264I and CCR5Delta 32 with type 1 diabetes and latent autoimmune diabetes in adults. Hum Immunol. Jun 2022。但同一條染色體的某些位置上，不同個體之間有可能存在“一字之差“，即單核苷酸多態(tài)性（ Single Nucleotide Polymorphism， SNP）。A New Light on DNA 基因有限公司市場部 王小彬 Pyrosequecing技術(shù)在 SNP分析 \分子診斷 和甲基化研究中的應(yīng)用 一種全新的 DNA分析技術(shù)； 一套完整的實驗方案； 諸多領(lǐng)域的廣泛應(yīng)用 …… Pyrosequencing Uppsala, Sweden, houses Pyrosequencing headquarters 瑞典的 Biotage公司致力于應(yīng)用其專利的 PyrosequencingTM技術(shù)，發(fā)展、制造和銷售全套應(yīng)用于遺傳分析的解決方案。 一 . 什么是 Pyrosequencing？ ?一種新型的基于酶級聯(lián)反應(yīng)的新型測序技術(shù) ?Sanger法測序 PPi ATP Principle of Pyrosequencing Detection of the light light time Nucleotides dispensed sequentially 1 2 3 4 5 6 7 8 9 10 11 0 1 A A G C T G The sequence in this pyrogram? is AGGCAG A GG C A G 二 . Pyrosequencing技術(shù)的流程 PCR產(chǎn)物 試樣預(yù)處理，獲得 PCR單鏈 Pyrosequencing序列分析 15 min/96 sample SQA:35 min/96 sample SNP: 10min/96 sample 12h /96 sample 遺傳變異 突變檢測 序列分析 定量分析 ?遺傳作圖 ?品種鑒定 ?病菌鑒定 ?克隆檢驗 ?... ?等位基因頻率分析 (AQ) ?單點或多個 SNP頻率分析 ?插入 /缺失頻率分析 ?雜和性缺失 ?CpG甲基化 ?多倍體基因組 ?SNP ?Biallelic SNPs ?Tri and tetraallelic SNPs ?Multiple SNPs ?Multiplexing ?Haplotyping 三 . PSQ? 96MA functionality ?已知位點 ?熱點區(qū)域內(nèi)的未知位點 ?點突變 ?插入 /缺失 ?多重突變 ?多路分析 臨床微生物研究 快速病毒、細(xì)菌的分型與鑒定 1. 炭疽熱（ Bacillus anthracis）細(xì)菌的快速鑒定與毒性分析 2. 百日咳桿菌和副百日咳桿菌的快速鑒定和分型 3. 幽門螺旋桿菌（ Helicobacter pylori）快速鑒定與抗藥性分析 4. Pyrosequencing技術(shù)用于革蘭氏陽性菌的鑒定 5. 李斯特桿菌（ Listeria monocytogenes） 的檢測和鑒別 6. 丙肝病毒的基因型研究 7. 快速監(jiān)控 HIV 病毒對蛋白酶抑制劑的不同抗性 ... ... 見 Pyrosequencing 快速 DNA分析系統(tǒng)在 CDC系統(tǒng)中的應(yīng)用 Target multiple anisms with one primer set CGGATGAGTTGGCTGGGCGGCCGCGGCTCGTATCCCGAGTCGAGGAAAGTCCGGACTTCACAGAGCAGGGTGAT CGGATGAGTTGGCTGGGCGGCCGCGGCTCGCGTAGGGCTTGTGTGGATTCACGAGGTTCAGCGTCGAGTCGAGGAAAGTCCGGACTTCACAGAGCAGGGTGAT CGGATGAGTTGGCTGGGCGGCCGCGGCTCGCGTAGGGCTTGTGTGGATTCACGAGGTTCAGCGTCGAGTCGAGGAAAGTCCGGACTTCACAGAGCAGGGTGAT CGGATGAGTTGGCTGGGCGGCCGCGGCTCGCGTAGGGCTTGTGTGGATTCACGAGGTTCAGCGTCGAGTCGAGGAAAGTCCGGACTTCACAGAGCAGGGTGAT CGGATGAGTTGGCTGGGCGGCCGCGGCTCGAGTCGGTTCGCAAGGACCGGCGCCGAGTCGAGGAAAGTCCGGACTTCACAGAG