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本文引用的文献

1
Association of an HLA-DQ allele with clinical tuberculosis.一种HLA - DQ等位基因与临床结核病的关联。
JAMA. 1998 Jan 21;279(3):226-8. doi: 10.1001/jama.279.3.226.
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Evolving views of the major histocompatibility complex.主要组织相容性复合体的演变观点。
Blood. 1997 Dec 1;90(11):4252-65.
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The -308 tumor necrosis factor-alpha promoter polymorphism effects transcription.肿瘤坏死因子-α启动子-308多态性影响转录。
Mol Immunol. 1997 Apr;34(5):391-9. doi: 10.1016/s0161-5890(97)00052-7.
4
Tumor necrosis factor constellation polymorphism and clozapine-induced agranulocytosis in two different ethnic groups.两个不同种族群体中肿瘤坏死因子星座多态性与氯氮平所致粒细胞缺乏症
Blood. 1997 Jun 1;89(11):4167-74.
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Effects of a polymorphism in the human tumor necrosis factor alpha promoter on transcriptional activation.人类肿瘤坏死因子α启动子多态性对转录激活的影响。
Proc Natl Acad Sci U S A. 1997 Apr 1;94(7):3195-9. doi: 10.1073/pnas.94.7.3195.
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TNF-alpha and genetic susceptibility to parasitic disease.肿瘤坏死因子-α与寄生虫病的遗传易感性
Exp Parasitol. 1996 Nov;84(2):300-3. doi: 10.1006/expr.1996.0117.
7
Tumor necrosis factor (TNF) microsatellite haplotypes in relation to extended haplotypes, susceptibility to diseases associated with the major histocompatibility complex and TNF secretion.肿瘤坏死因子（TNF）微卫星单倍型与扩展单倍型、对主要组织相容性复合体相关疾病的易感性及TNF分泌的关系
Hum Immunol. 1996 Sep 15;50(1):11-21. doi: 10.1016/0198-8859(96)00064-x.
8
-308 tumor necrosis factor (TNF) polymorphism is not associated with survival in severe sepsis and is unrelated to lipopolysaccharide inducibility of the human TNF promoter.-308肿瘤坏死因子（TNF）基因多态性与严重脓毒症的生存率无关，且与人TNF启动子的脂多糖诱导性无关。
J Inflamm. 1995;46(1):42-50.
9
Relevance of the tumor necrosis factor alpha (TNF alpha) -308 promoter polymorphism in TNF alpha gene regulation.肿瘤坏死因子α（TNFα）-308启动子多态性在TNFα基因调控中的相关性。
J Inflamm. 1995;46(1):32-41.
10
A new TNFA promoter allele identified in South American Blacks.在南美黑人中鉴定出一种新的肿瘤坏死因子α（TNFA）启动子等位基因。
Immunogenetics. 1996;44(6):485-6.

人类肿瘤坏死因子-α基因启动子中三个新单核苷酸多态性的鉴定

Identification of three new single nucleotide polymorphisms in the human tumor necrosis factor-alpha gene promoter.

作者信息

Uglialoro A M, Turbay D, Pesavento P A, Delgado J C, McKenzie F E, Gribben J G, Hartl D, Yunis E J, Goldfeld A E

机构信息

Department of Medicine, Dana-Farber Cancer Institute and Harvard Medical School, Boston, Massachusetts, USA.

出版信息

Tissue Antigens. 1998 Oct;52(4):359-67. doi: 10.1111/j.1399-0039.1998.tb03056.x.

DOI:10.1111/j.1399-0039.1998.tb03056.x
PMID:9820599
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2518982/
Abstract

We have identified three new human tumor necrosis factor-alpha (TNF-alpha) promoter polymorphisms with single nucleotide (nt) substitutions at -862, -856, and -574 nt relative to the TNF-alpha transcription start site. The -862 and -856 nt TNF-alpha promoter polymorphisms occur with high frequency in Caucasian and Cambodian individuals and are each non-randomly associated with three extended HLA haplotypes. This study, in which 61 independent TNF-alpha promoters were analyzed spanning from -977 to +93 nt relative to the TNF-alpha mRNA cap site, establishes a new canonical TNF-alpha promoter sequence. Furthermore, we show that none of the three novel polymorphisms at -862, -856 and -574 nt or polymorphisms previously described at positions -238, -308 and +70 have an effect upon TNF-alpha gene expression in activated lymphocytes. Thus, these TNF-alpha promoter polymorphisms likely serve as markers for neighboring genes encoding HLA or other undefined molecules in the MHC that may influence disease susceptibility.

摘要

我们已经鉴定出三种新的人类肿瘤坏死因子-α（TNF-α）启动子多态性，相对于TNF-α转录起始位点，在-862、-856和-574核苷酸处存在单核苷酸（nt）替换。-862和-856 nt的TNF-α启动子多态性在白种人和柬埔寨个体中高频出现，并且各自与三种扩展的HLA单倍型非随机相关。本研究分析了61个相对于TNF-α mRNA帽位点从-977到+93 nt的独立TNF-α启动子，确立了一种新的标准TNF-α启动子序列。此外，我们表明，-862、-856和-574 nt处的三种新型多态性或先前在-238、-308和+70位置描述的多态性，均对活化淋巴细胞中的TNF-α基因表达没有影响。因此，这些TNF-α启动子多态性可能作为编码HLA或MHC中其他未定义分子的相邻基因的标记，这些基因可能影响疾病易感性。