文献詳細
文献概要
今月の主題 ホルマリン固定パラフィン包埋標本からどこまで遺伝子検索は可能か? 総説
ホルマリン固定パラフィン包埋標本から現在DNAはどこまで抽出可能で検索可能か?
著者: 古川徹1
所属機関: 1東京女子医科大学国際統合医科学
ページ範囲:P.721 - P.730
文献購入ページに移動 ホルマリン固定パラフィン包埋組織標本は最も一般的に入手可能な組織材料であり,それを用いて遺伝子解析をすることはretrospectiveな診断・研究において非常に重要であることは論をまたない.本稿ではホルマリン固定パラフィン包埋組織標本からのDNA抽出法とそれを用いた研究法として基本的な塩基配列解析法から,ヘテロ接合性検索法としてのマイクロサテライト解析,クローナリティや特定遺伝子のメチル化を検出するメチル化解析法,そして,全ゲノム増幅法とそれを応用したゲノムタイピングについて概説した.ホルマリン固定パラフィン包埋標本を材料にしては高分子DNAを対象にした検索は困難であるが,それを補う技術が次々と開発されており,ゲノムタイピングまで可能な現在,その限界は見えていないといえる.〔臨床検査 50:721-730,2006〕
参考文献
1) Goelz SE, Hamilton SR, Vogelstein B:Purification of DNA from formaldehyde fixed and paraffin embedded human tissue. Biochem Biophys Res Commun 130:118-126, 1985
2) Dubeau L, Chandler LA, Gralow JR, et al.:Southern blot analysis of DNA extracted from formalin-fixed pathology specimens. Cancer Res 46:2964-2969, 1986
3) Shibata D, Martin WJ, Arnheim N:Analysis of DNA sequences in forty-year-old paraffin-embedded thin-tissue sections:a bridge between molecular biology and classical histology. Cancer Res 48:4564-4566, 1988
4) Greer CE, Peterson SL, Kiviat NB, et al:PCR amplification from paraffin-embedded tissues. Effects of fixative and fixation time. Am J Clin Pathol 95:117-124, 1991
5) Levi S, Urbano-Ispizua A, Gill R, et al:Multiple K-ras codon 12 mutations in cholangiocarcinomas demonstrated with a sensitive polymerase chain reaction technique. Cancer Res 51:3497-3502, 1991
6) Furukawa T, Fujisaki R, Yoshida Y, et al:Distinct progression pathways involving the dysfunction of DUSP6/MKP-3 in pancreatic intraepithelial neoplasia and intraductal papillary-mucinous neoplasms of the pancreas. Mod Pathol 18:1034-1042, 2005
7) Kimura M, Furukawa T, Abe T, et al:Identification of two common regions of allelic loss in chromosome arm 12q in human pancreatic cancer. Cancer Res 58:2456-2460, 1998
8) Parsons R, Li GM, Longley MJ, et al:Hypermutability and mismatch repair deficiency in RER+tumor cells. Cell 75:1227-1236, 1993
9) Markowitz S, Wang J, Myeroff L, et al:Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. Science 268:1336-1338, 1995
10) Mashal RD, Lester SC, Sklar J:Clonal analysis by study of X chromosome inactivation in formalin-fixed paraffin-embedded tissue. Cancer Res 53:4676-4679, 1993
11) Herman JG:Hypermethylation of tumor suppressor genes in cancer. Semin Cancer Biol 9:359-367, 1999
12) Xu S, Furukawa T, Kanai N, et al:Abrogation of DUSP6 by hypermethylation in human pancreatic cancer. J Hum Genet 50:159-167, 2005
13) Telenius H, Carter NP, Bebb CE, et al:Degenerate oligonucleotide-primed PCR:general amplification of target DNA by a single degenerate primer. Genomics 13:718-725, 1992
14) Cheung VG, Nelson SF:Whole genome amplification using a degenerate oligonucleotide primer allows hundreds of genotypes to be performed on less than one nanogram of genomic DNA. Proc Natl Acad Sci USA 93:14676-14679, 1996
15) Zhang L, Cui X, Schmitt K, et al:Whole genome amplification from a single cell:implications for genetic analysis. Proc Natl Acad Sci USA 89:5847-5851, 1992
16) Dietmaier W, Hartmann A, Wallinger S, et al:Multiple mutation analyses in single tumor cells with improved whole genome amplification. Am J Pathol 154:83-95, 1999
17) Speicher MR, Jauch A, Walt H, et al:Correlation of microscopic phenotype with genotype in a formalin-fixed, paraffin-embedded testicular germ cell tumor with universal DNA amplification, comparative genomic hybridization, and interphase cytogenetics. Am J Pathol 146:1332-1340, 1995
18) Pinkel D, Segraves R, Sudar D, et al:High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 20:207-211, 1998
19) Devries S, Nyante S, Korkola J, et al:Array-based comparative genomic hybridization from formalin-fixed, paraffin-embedded breast tumors. J Mol Diagn 7:65-71, 2005
20) Altshuler D, Brooks LD, Chakravarti A, et al:A haplotype map of the human genome. Nature 437:1299-1320, 2005
21) Lips EH, Dierssen JW, van Eijk R, et al:Reliable high-throughput genotyping and loss-of-heterozygosity detection in formalin-fixed, paraffin-embedded tumors using single nucleotide polymorphism arrays. Cancer Res 65:10188-10191, 2005
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