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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/11/28 06:58:32」(JST)
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- 1. 小児や青年の遺伝性再生不良性貧血inherited aplastic anemia in children and adolescents [show details]
- 2. ファンコニー貧血の臨床症状と診断clinical manifestations and diagnosis of fanconi anemia [show details]
English Journal
- Cytotoxicity, genotoxicity, and mutagenicity of 1-chloro-2-hydroxy-3-butene and 1-chloro-3-buten-2-one, two alternative metabolites of 1,3-butadiene.
- Liu XJ, Zeng FM, An J, Yu YX, Zhang XY, Elfarra AA.SourceInstitute of Environmental Pollution and Health, School of Environmental and Chemical Engineering, Shanghai University, Shanghai 200444, PR China.
- Toxicology and applied pharmacology.Toxicol Appl Pharmacol.2013 Aug 15;271(1):13-9. doi: 10.1016/j.taap.2013.04.019. Epub 2013 May 2.
- The cytotoxicity, genotoxicity, and mutagenicity of 1-chloro-2-hydroxy-3-butene (CHB), a known in vitro metabolite of the human carcinogen 1,3-butadiene, have not previously been investigated. Because CHB can be bioactivated by alcohol dehydrogenases to yield 1-chloro-3-buten-2-one (CBO), a bifuncti
- PMID 23643860
- Capillary HPLC-Accurate Mass MS/MS Quantitation of N7-(2, 3, 4-trihydroxybut-1-yl)-guanine Adducts of 1,3-Butadiene in Human Leukocyte DNA.
- Sangaraju D, Villalta PW, Goggin M, Agunsoye M, Campbell C, Tretyakova NY.Abstract1,3-butadiene (BD) is a high volume industrial chemical commonly used in polymer and rubber production. It is also present in cigarette smoke, automobile exhaust, and urban air, leading to widespread exposure of human populations. Upon entering the body, BD is metabolized to electrophilic epoxides, 3,4-epoxy-1-butene (EB), diepoxybutane (DEB), and 3,4-epoxy-1,2-diol (EBD), which can alkylate DNA nucleobases. The most abundant BD epoxide, EBD, modifies the N7-guanine positions in DNA to form N7-(2, 3, 4-trihydroxybut-1-yl) guanine (N7-THBG) adducts, which can be useful as biomarkers of BD exposure and metabolic activation to DNA-reactive epoxides. In the present work, a capillary HPLC- high resolution ESI+-MS/MS (HPLC-ESI+-HRMS/MS) methodology was developed for accurate, sensitive, and reproducible quantification of N7-THBG in cell culture and in human white blood cells. In our approach, DNA is subjected to neutral thermal hydrolysis to release N7-guanine adducts from the DNA backbone, followed by ultrafiltration, solid phase extraction, and isotope dilution HPLC-ESI+-HRMS/MS analysis on an Orbitrap Velos mass spectrometer. Following method validation, N7-THBG was quantified in human fibrosarcoma (HT1080) cells treated with µmolar concentrations of DEB and in DNA isolated from blood of smokers, nonsmokers, individuals participating in a smoking cessation program, and occupationally exposed workers. N7-THBG concentrations increased linearly from 31.4µ± 4.84 to 966.55 ± 128.05 adducts per 109 nucleotides in HT1080 cells treated with 1 -100 µM DEB. N7-THBG amounts in leukocyte DNA of non-smokers, smokers, and occupationally exposed workers were 7.08 ± 5.29, 8.20 ± 5.12, and 9.72 ± 3.80 adducts per 109 nucleotides, respectively, suggesting the presence of an endogenous or environmental source for this adduct. The availability of sensitive HPLC-ESI+-HRMS/MS methodology for BD-induced DNA adducts in humans will enable future population studies of inter-individual and ethnic differences in BD bioactivation to DNA-reactive epoxides.
- Chemical research in toxicology.Chem Res Toxicol.2013 Aug 12. [Epub ahead of print]
- 1,3-butadiene (BD) is a high volume industrial chemical commonly used in polymer and rubber production. It is also present in cigarette smoke, automobile exhaust, and urban air, leading to widespread exposure of human populations. Upon entering the body, BD is metabolized to electrophilic epoxides,
- PMID 23937706
- Investigation of FANCA Mutations in Greek Patients.
- Selenti N, Sofocleous C, Kattamis A, Kolialexi A, Kitsiou S, Fryssira E, Polychronopoulou S, Kanavakis E, Mavrou A.SourceAghia Sophia Children's Hospital, Department of Medical Genetics, Athens University School of Medicine, Thivon and Levadeias 11527, Goudi, Athens, 2nd floor, Room 26, Greece. nikoletta_selenti@hotmail.com.
- Anticancer research.Anticancer Res.2013 Aug;33(8):3369-74.
- BACKGROUND: Fanconi anemia (FA) is a rare genetic disease characterized by considerable heterogeneity. Fifteen subtypes are currently recognised and deletions of the Fanconi anemia complementation group A (FANCA) gene account for more than 65% of FA cases. We report on the results from a cohort of 1
- PMID 23898106
Japanese Journal
- Evaluation of molecularly imprinted solid-phase extraction for a 1,2:3,4-diepoxybutane adduct to valine
- MOLLER Kristina,DAVIES Ronnie,FRED Charlotta,TORNQVIST Margareta,NILSSON Ulrika
- Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 878(27), 2497-2501, 2010-10-01
- NAID 10028041375
- Diepoxybutane and mitomycin C toxicity is associated with the induction of oxidative DNA damage in sea urchin embryos
- PAGANO G
- Hum Exp Toxicol 20, 651-655, 2001
- NAID 30022437851
Related Links
- CAS Number - Chemical Abstracts Service registry number. Unique identification number assigned to this chemical by the American Chemical Society. UN/NA Number - The United Nations-North America number (also called UN ...
- [1,2:3,4-Diepoxybutane] [1464-53-5] | 価格や在庫、物性値などの詳細情報ページです。 ... ・川口の在庫は即日，つくばの在庫は2〜3日以内の出荷となります。・詳細につきましては，お手数ですが営業部までお問い合わせください。
- Diepoxybutane - chemical information, properties, structures, articles, patents and more chemical data. Enter your search term above and find: · CAS Numbers · Molecular Formulas · Synonyms · Sites/Web Search · Suppliers · Resources
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★リンクテーブル★
| リンク元 | 「ファンコニー貧血」「DEB」「ジエポキシブタン」 |
「ファンコニー貧血」
- 英
- Fanconi anemia Fanconi's anemia FA
- 同
- ファンコニ貧血、ファンコニ貧血症、ファンコーニ貧血症、Fanconi貧血、ファンコニー貧血症、ファンコニー貧血
- ファンコーニ汎血球減少 Fanconi pancytopenia
- 関
- 再生不良性貧血、染色体切断症候群
概念
- 先天性再生不良性貧血。
- 進行性の汎血球減少と低身長、小頭症などの多発奇形や、皮膚の色素沈着、性器発育不全、白血病や各種の悪性腫瘍の易罹患傾向
- 橈骨側の異常
- (1)骨髄不全、(2)先天奇形、(3)皮膚の色素沈着、(4)低身長、(5)性腺機能不全を特徴とする常染色体劣性遺伝の疾患(PED.1122)
- 貧血の発症は4-6歳。(医学事典)
病因
- DNAの修復機構の異常により、細胞のアポトーシスが起こりやすくなるため
相補群による分類
- FANCA
- FANCB
- FANCC
- FANCD
- FANCE
- FANCF
- FANCG
- FANCX?
疫学
遺伝形式
| FAMILIAL CANCER SYNDROME AR: DNA repair abnormalities |
| xeroderma pigmentosum |
| Fanconi's anemia |
| ataxia telangiectasia |
病変形成＆病理
症状
- 奇形：母指欠損、橈骨の欠損または低形成、側弯症、先天股脱。 第1指奇形など橈側の奇形や腎・泌尿器系の奇形が多い(PED.1122) → 奇形を伴わない症例はtren-Dameshe症候群
- 身体：低身長
- 頭部：小頭症、知能発達遅延(知能障害)、小眼球症、斜視
- 皮膚：色素沈着、
- 心臓：心奇形
- 腎臓：腎の無形成、重複腎盂、馬蹄腎
- 内分泌：下垂体不全
- 血液：汎血球減少
合併症
- 悪性腫瘍：骨髄異形成症、急性骨髄性白血病、扁平上皮癌。(PED.1122)
検査
染色体検査
- 染色体の脆弱に基づく
- 染色体の断裂、ギャップ形成、娘染色体変換。(PED.1122)
診断
治療
- 根治療法は同種骨髄移植
予後
- 薬物療法に抵抗し、予後は不良
- 半数が16歳までに死亡(医学時点)
鑑別診断
- Bloom syndrome、ataxia-telangiectasia、ファンコーニ貧血 (WCH.1409)
- 共通点：自発的な染色体の断裂がみられる
- 相違点：ファンコーニ貧血だけがdiepoxybutane(DEB)による遺伝子切断の増加が見られる
「DEB」
「ジエポキシブタン」
- 英
- diepoxybutane, DEB