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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク ΔF508 ： ウィキペディア英語版 ΔF508 ΔF508 (delta-F508, full name CFTRΔF508 or F508del-CFTR; (rs113993960 )) is a specific mutation within the gene for a protein called the cystic fibrosis transmembrane conductance regulator (CFTR). The mutation is a deletion of the three nucleotides that comprise the codon for phenylalanine (F) at position 508. A person with the CFTRΔF508 mutation will produce an abnormal CFTR protein that lacks this phenylalanine residue. This protein does not escape the endoplasmic reticulum for further processing. Having two copies of this mutation (one inherited from each parent) is the leading cause of cystic fibrosis (CF). ==Mechanism== The three DNA base pairs T-A-G at position 507 of the CFTR nucleotide sequence form the template for the mRNA codon A-U-C for the amino acid isoleucine, while the three DNA base pairs A-A-A at the adjacent position 508 form the template for the codon U-U-U for phenylalanine.〔http://www.ncbi.nlm.nih.gov/CCDS/CcdsBrowse.cgi?REQUEST=CCDS&DATA=CCDS5773.1〕 The ΔF508 mutation is a deletion of the G pair from position 507 along with two A-A pairs from position 508, leaving the DNA sequence T-A-A at position 507 forming the codon A-U-U. Since A-U-U also codes for isoleucine, position 507's amino acid is unchanged, and the mutation's net effect is equivalent to a deletion ("Δ") of the sequence resulting in the codon for phenylalanine ("F") at position 508. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「ΔF508」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.