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1
Specific genomic markers for the HLA-DQ subregion discriminate between DR4+ insulin-dependent diabetes mellitus and DR4+ seropositive juvenile rheumatoid arthritis.HLA - DQ亚区域的特定基因组标记可区分DR4阳性的胰岛素依赖型糖尿病和DR4阳性的血清阳性青少年类风湿性关节炎。
J Exp Med. 1986 Jul 1;164(1):345-50. doi: 10.1084/jem.164.1.345.
2
A diabetes-susceptible HLA haplotype is best defined by a combination of HLA-DR and -DQ alleles.糖尿病易感HLA单倍型最好由HLA-DR和-DQ等位基因的组合来定义。
J Clin Invest. 1989 Mar;83(3):830-5. doi: 10.1172/JCI113965.
3
Sequence analysis of HLA class II genes from insulin-dependent diabetic individuals.胰岛素依赖型糖尿病患者HLA II类基因的序列分析。
Hum Immunol. 1988 Apr;21(4):249-63. doi: 10.1016/0198-8859(88)90034-1.
4
Polymorphisms of DQ beta genes in HLA-DR4 haplotypes from healthy and diabetic individuals.健康个体和糖尿病个体中HLA - DR4单倍型的DQβ基因多态性
Immunogenetics. 1987;25(3):152-60. doi: 10.1007/BF00344028.
5
Immunogenetics of disease susceptibility: new perspectives in HLA.疾病易感性的免疫遗传学：HLA的新视角
Pathol Immunopathol Res. 1986;5(1):37-46. doi: 10.1159/000157002.
6
A deletion mutant defines DQ beta variants with DR4 positive DQw3 positive haplotypes.一个缺失突变体定义了具有DR4阳性、DQw3阳性单倍型的DQβ变体。
Hum Immunol. 1986 Oct;17(2):87-93. doi: 10.1016/0198-8859(86)90078-9.
7
Analysis of DR and DQ gene products of the DR4 haplotype in patients with IDDM: possible involvement of more than one locus.胰岛素依赖型糖尿病患者DR4单倍型的DR和DQ基因产物分析：可能有多个基因座参与。
Hum Immunol. 1988 Dec;23(4):289-99. doi: 10.1016/0198-8859(88)90064-x.
8
Identification of an HLA-DQ beta-chain related genomic sequence associated with insulin-dependent diabetes.鉴定与胰岛素依赖型糖尿病相关的HLA - DQβ链相关基因组序列。
Biomed Biochim Acta. 1985;44(1):33-6.
9
HLA DQ beta 3.2 identifies subtypes of DR4+ haplotypes permissive for IDDM.HLA DQβ3.2可识别对胰岛素依赖型糖尿病（IDDM）易感的DR4+单倍型的亚型。
Genet Epidemiol. 1989;6(1):149-54. doi: 10.1002/gepi.1370060128.
10
HLA-DQ beta sequence polymorphism and genetic susceptibility to IDDM.HLA-DQβ序列多态性与胰岛素依赖型糖尿病的遗传易感性
Diabetes. 1990 Jan;39(1):96-103. doi: 10.2337/diacare.39.1.96.

引用本文的文献

1
Failure of gamma interferon but not interleukin-10 expression in response to human papillomavirus type 11 E6 protein in respiratory papillomatosis.在呼吸道乳头状瘤病中，γ干扰素表达对11型人乳头瘤病毒E6蛋白无反应，但白细胞介素-10表达正常。
Clin Diagn Lab Immunol. 2004 May;11(3):538-47. doi: 10.1128/CDLI.11.3.538-547.2004.
2
Induction of insulitis by glutamic acid decarboxylase peptide-specific and HLA-DQ8-restricted CD4(+) T cells from human DQ transgenic mice.来自人DQ转基因小鼠的谷氨酸脱羧酶肽特异性且受HLA-DQ8限制的CD4(+) T细胞诱导胰岛炎
J Clin Invest. 1998 Sep 1;102(5):947-57. doi: 10.1172/JCI2723.
3
Both DQA1 and DQB1 genes are implicated in HLA-associated protection from type 1 (insulin-dependent) diabetes mellitus in a British Caucasian population.在英国白种人群中，DQA1和DQB1基因均与HLA相关的1型（胰岛素依赖型）糖尿病保护作用有关。
Diabetologia. 1993 Mar;36(3):252-7. doi: 10.1007/BF00399959.
4
I-E+ nonobese diabetic mice develop insulitis and diabetes.I-E+非肥胖糖尿病小鼠会发生胰岛炎和糖尿病。
J Exp Med. 1993 Sep 1;178(3):793-803. doi: 10.1084/jem.178.3.793.
5
HLA-DQ primarily confers protection and HLA-DR susceptibility in type I (insulin-dependent) diabetes studied in population-based affected families and controls.在基于人群的患病家庭和对照中所研究的I型（胰岛素依赖型）糖尿病中，HLA-DQ主要赋予保护作用，而HLA-DR则易导致发病。
Am J Hum Genet. 1993 Jul;53(1):150-67.
6
Particular HLA-DQ molecules play a dominant role in determining susceptibility or resistance to type 1 (insulin-dependent) diabetes mellitus.特定的人类白细胞抗原-DQ分子在决定对1型（胰岛素依赖型）糖尿病的易感性或抵抗力方面起主导作用。
Diabetologia. 1993 May;36(5):371-7. doi: 10.1007/BF00402270.
7
Inheritance of MHC class II genes in IDDM studied in population-based affected and control families.在基于人群的患病家庭和对照家庭中研究胰岛素依赖型糖尿病中MHC II类基因的遗传情况。
Diabetologia. 1994 Nov;37(11):1105-12. doi: 10.1007/BF00418374.
8
Association of LMP2 and LMP7 genes within the major histocompatibility complex with insulin-dependent diabetes mellitus: population and family studies.主要组织相容性复合体中LMP2和LMP7基因与胰岛素依赖型糖尿病的关联：人群和家族研究。
Am J Hum Genet. 1995 Feb;56(2):528-34.
9
Molecular biology of IDDM.胰岛素依赖型糖尿病的分子生物学
Diabetologia. 1994 Sep;37 Suppl 2:S73-81. doi: 10.1007/BF00400829.
10
The HLA-D associations of type 1 (insulin-dependent) diabetes in Punjabi Asians in the United Kingdom.英国旁遮普亚洲人中1型（胰岛素依赖型）糖尿病与HLA - D的关联。
Diabetologia. 1987 Aug;30(8):618-21. doi: 10.1007/BF00277317.

本文引用的文献

1
Complete amino acid sequence of an HLA-DR antigen-like beta chain as predicted from the nucleotide sequence: similarities with immunoglobulins and HLA-A, -B, and -C antigens.根据核苷酸序列预测的一种HLA - DR抗原样β链的完整氨基酸序列：与免疫球蛋白以及HLA - A、- B和 - C抗原的相似性。
Proc Natl Acad Sci U S A. 1982 Jun;79(12):3687-91. doi: 10.1073/pnas.79.12.3687.
2
Extended major histocompatibility complex haplotypes in type I diabetes mellitus.I型糖尿病中的扩展主要组织相容性复合体单倍型
J Clin Invest. 1984 Aug;74(2):449-54. doi: 10.1172/JCI111441.
3
Specific HLA-DR4-associated histocompatibility molecules characterize patients with seropositive juvenile rheumatoid arthritis.特定的与HLA - DR4相关的组织相容性分子是血清阳性青少年类风湿性关节炎患者的特征。
J Clin Invest. 1984 Jul;74(1):287-91. doi: 10.1172/JCI111413.
4
The HLA-DR4 family of haplotypes consists of series of distinct DR and DS molecules.HLA - DR4单倍型家族由一系列不同的DR和DS分子组成。
J Exp Med. 1984 Feb 1;159(2):394-404. doi: 10.1084/jem.159.2.394.
5
Electrophoretic analysis of human HLA-DR antigens from HLA-DR4 homozygous cell lines: correlation between beta-chain diversity and HLA-D.来自HLA - DR4纯合细胞系的人类HLA - DR抗原的电泳分析：β链多样性与HLA - D之间的相关性
Proc Natl Acad Sci U S A. 1983 Nov;80(22):6962-6. doi: 10.1073/pnas.80.22.6962.
6
The heavy chain of human B-cell alloantigen HLA-DS has a variable N-terminal region and a constant immunoglobulin-like region.人类B细胞同种异体抗原HLA-DS的重链具有可变的N端区域和恒定的免疫球蛋白样区域。
Nature. 1983;305(5937):813-5. doi: 10.1038/305813a0.
7
HLA-D region beta-chain DNA endonuclease fragments differ between HLA-DR identical healthy and insulin-dependent diabetic individuals.HLA-D区域β链DNA内切酶片段在HLA-DR相同的健康个体和胰岛素依赖型糖尿病个体之间存在差异。
Nature. 1983 Jun 30;303(5920):815-7. doi: 10.1038/303815a0.
8
Two-dimensional gel electrophoretic analysis of the MT3 and DR4 molecules from the different D-typed cells.对来自不同D型细胞的MT3和DR4分子进行二维凝胶电泳分析。
J Exp Med. 1984 Sep 1;160(3):751-8. doi: 10.1084/jem.160.3.751.
9
Dw/LD-related molecular polymorphism of DR4 beta-chains.DR4 β链与疾病严重程度/狼疮性肾炎相关的分子多态性
J Exp Med. 1983 May 1;157(5):1687-91. doi: 10.1084/jem.157.5.1687.
10
Susceptibility to insulin-dependent diabetes defined by restriction enzyme polymorphism of HLA-D region genomic DNA.由HLA - D区域基因组DNA的限制性内切酶多态性所定义的胰岛素依赖型糖尿病易感性。
Diabetes. 1984 Oct;33(10):958-65. doi: 10.2337/diab.33.10.958.

HLA - DQ亚区域的特定基因组标记可区分DR4阳性的胰岛素依赖型糖尿病和DR4阳性的血清阳性青少年类风湿性关节炎。

Specific genomic markers for the HLA-DQ subregion discriminate between DR4+ insulin-dependent diabetes mellitus and DR4+ seropositive juvenile rheumatoid arthritis.

作者信息

Nepom B S, Palmer J, Kim S J, Hansen J A, Holbeck S L, Nepom G T

出版信息

J Exp Med. 1986 Jul 1;164(1):345-50. doi: 10.1084/jem.164.1.345.

DOI:10.1084/jem.164.1.345
PMID:3014039
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2188212/
Abstract

HLA-DR4, Dw4-associated haplotypes associated with IDDM and JRA were compared using genomic DNA restriction fragment analysis to distinguish among DQ beta and alpha alleles linked to DR4. DQ beta polymorphisms that subdivide the HLA-DQw3 specificity into DQ3.1 and 3.2 alleles were identified. More than 90% of DR4+ IDDM patients express one of these alleles, DQ3.2; restriction enzyme mapping indicates that the presence of this allele also accounts for the genomic fragment patterns previously reported in IDDM. Furthermore, haplo-identical siblings of DQ3.2 IDDM patients also carry the DQ3.2 allele, regardless of clinical presentation. In contrast, DR4+ JRA patients show no allelic preference at DQ beta, implicating different HLA genetic contributions in these two DR4-associated diseases.

摘要

利用基因组DNA限制性片段分析比较了与胰岛素依赖型糖尿病（IDDM）和青少年类风湿性关节炎（JRA）相关的HLA - DR4、Dw4单倍型，以区分与DR4连锁的DQβ和α等位基因。确定了将HLA - DQw3特异性细分为DQ3.1和3.2等位基因的DQβ多态性。超过90%的DR4 + IDDM患者表达这些等位基因之一，即DQ3.2；限制性酶切图谱表明，该等位基因的存在也解释了先前在IDDM中报道的基因组片段模式。此外，DQ3.2 IDDM患者的单倍型相同的同胞也携带DQ3.2等位基因，无论临床表现如何。相比之下，DR4 + JRA患者在DQβ上没有等位基因偏好，这表明在这两种与DR4相关的疾病中，HLA基因的贡献不同。