【正文】 GATGAGTTGGCTGGGCGGCCGCGGCTCGCGTAGGGCTTGTGTGGATTCACGAGGTTCAGCGTCGAGTCGAGGAAAGTCCGGACTTCACAGAGCAGGGTGAT CGGATGAGTTGGCTGGGCGGCCGCGGCTCGCGTAGGGCTTGTGTGGATTCACGAGGTTCAGCGTCGAGTCGAGGAAAGTCCGGACTTCACAGAGCAGGGTGAT CGGATGAGTTGGCTGGGCGGCCGCGGCTCGAGTCGGTTCGCAAGGACCGGCGCCGAGTCGAGGAAAGTCCGGACTTCACAGAGCAGGGTGAT CGGATGAGTTGGCTGGGCGGCCGCGGCTCGAGTTGGTTCGCAAGGATCGGCGCCGAGCCGAGGAAAGTCCGGACTTCACAGAGCAGGGTGAT CGGATGAGTTGGCTGGGCGGCCGCGGCTCGGGTTGGGCTCGTGTTATCACGAGTTCAGCGCCGAATCGAGGAAAGTCCGGACTTCACAGAGCTGGGTGAT CGGATGAGTTGGCTGGGCGGCCGCGGCCCGAGTCGGTCCGAGAGGTGCCGACTTGAGTCGAGGAAAGTCCGGACTTCACAGAGCAGGGTGAT CGGATGAGTTGGCTGGGCGGCCGCGGCTCGCGCCGGTCGAGAGTCCGGTGCCGAGTCGAGGAAAGTCCGGACTTCACAGAGCAGGGTGAT CGGATGAGTTGGCTGGGCGGCCGCGGCTCGTGTCGGTCTGAAAGTCCCGGTAACGAGTCGAGGAAAGTCCGGACTTCACAGAGCAGGGTGAT CGGATGAGTTGGCTGGGCGGCCGCGGGCCGTCGCAAGGCGGTTCGAGGAAAGTCCGGACTTCACAGAGCAGGGTGAT CGGATGAGTTGGCTGGGCGGCCGCGGCTCTCCCTGGTCCGCAGGACCATGCGAGTCGAGGAAAGTCCGGACTTCACAGAGCAGGGTGGT CGGATGAGTTGGCTGGGCGGCCGCGGCTCGTTTCGGCGAGTCGAGGAAAGTCCGGACTTCACAGAGCAGGGTGGT CGGATGAGTTGGCTGGGCGGCCGCGGCACCGGTGCAAACCGGGGTCGAGGAAAGTCCGGACTTCACAGAGCGGGGTGAT CGGATGAGTTGGCTGGGCGGCCGCGGCATCGCCTGATGTCGAGGAAAGTCCGGACTTCACAGAGCAGGGTGAT Forward CGGATGAGTTGGCTGGGC Reverse GACTTCACAGAGCHGGGTGYTTT Sequence CTGGGCGGCCGCGG PCR forward PCR reverse Sequence primer 16個臨床上非常重要的鏈球菌 rnpB基因 p3區(qū)域 ? Identification ? Risk for cancer Conserved region H. pylori specific region Conserved region 16S rRNA gene 23S rRNA gene ? Resistance/sensitivity A2143G A2142G + 3954 511 31 IL1beta gene All analyses can be run on one plate Versatility – Helicobacter pylori 1, Pyrosequencing公司和 Cleveland Clinic Foundation合作 ,研究引起肺結核等疾病的分支桿菌 (mycobacteria)的快速鑒定方法 2, Pyrosequencing公司和 Scottish Meningococcus and Pneumococcus Reference Laboratory, Stobhill Hospital, Glasgow, Scotland合作 ,研究引起腦膜炎和敗血病的細菌 Neisseria meningitidis (N. meningitidis) 的快速精確的鑒定和分型 ,包括SNPs和 short sequence stretches 3, Pyrosequencing公司和 Clinical Bacteriology, Uppsala University, Sweden合作 ,研究幽門螺旋桿菌 (Helicobacter pylori), 肺結核分支桿菌 (Mycobacterium tuberculosis)和炭疽熱細菌(Bacillus anthracis)的 快速鑒定和檢測及細菌耐藥性 Pyrosequencing測序數(shù)據的優(yōu)點 ? 方法獨特 ,可以鑒別野生型和突變型混合群體 ? 序列數(shù)據可以分辨不同的群體以及它們的比例 ? 其它技術很難做到這一點 SNP分析 什么是 SNP? ? 同一種屬的不同個體的 DNA序列在很大程度上是一致的。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）。 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。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。23(1):927. Related Articles, Links – Pyrosequencingbased SNP allele frequency estimation in DNA pools. Lavebratt C, Sengul S, Jansson M, Schalling M. Department