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在伴有HLA表达缺陷的联合免疫缺陷综合征中使用DNA探针进行基因分型。

Genotyping with DNA probes in combined immunodeficiency syndrome with defective expression of HLA.

作者信息

Marcadet A, Cohen D, Dausset J, Fischer A, Durandy A, Griscelli C

出版信息

N Engl J Med. 1985 May 16;312(20):1287-92. doi: 10.1056/NEJM198505163122004.

DOI:10.1056/NEJM198505163122004
PMID:2985991
Abstract

We performed HLA genotyping by using restriction-enzyme fragments hybridized with specific HLA probes instead of traditional immunologic methods in two patients whose lymphocytes expressed so few HLA antigens on the cell surface that serologic methods failed. Segregation of restriction-fragment-length polymorphism permitted identification of the genotypes. In addition, known correlations between serologically determined antigens and restriction-fragment-length polymorphism were confirmed. We applied this approach in making therapeutic decisions regarding bone marrow transplantation.

摘要

我们采用与特定HLA探针杂交的限制性酶切片段,而非传统免疫方法,对两名患者进行HLA基因分型。这两名患者淋巴细胞在细胞表面表达的HLA抗原极少,血清学方法无法检测。限制性片段长度多态性的分离使得基因型得以识别。此外,血清学检测抗原与限制性片段长度多态性之间已知的相关性得到了证实。我们将这种方法应用于骨髓移植的治疗决策。

相似文献

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Genotyping with DNA probes in combined immunodeficiency syndrome with defective expression of HLA.在伴有HLA表达缺陷的联合免疫缺陷综合征中使用DNA探针进行基因分型。
N Engl J Med. 1985 May 16;312(20):1287-92. doi: 10.1056/NEJM198505163122004.
2
A comparison of serological, cellular and DNA-RFLP methods for HLA matching in the selection of related bone marrow donors.血清学、细胞和DNA-RFLP方法在相关骨髓供体选择中进行HLA配型的比较。
Bone Marrow Transplant. 1989 Jan;4(1):63-8.
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HLA class II typing by restriction fragment length polymorphism (RFLP) in unrelated bone marrow transplant patients.无关供者骨髓移植患者中通过限制性片段长度多态性(RFLP)进行HLA II类分型
Transplant Proc. 1989 Feb;21(1 Pt 3):2968-70.
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[Progress and prospects of HLA genotyping technology].[人类白细胞抗原基因分型技术的进展与展望]
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The genetics of the HLA system.HLA系统的遗传学
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High and intermediate resolution DNA typing systems for class I HLA-A, B, C genes by hybridization with sequence-specific oligonucleotide probes (SSOP).通过与序列特异性寡核苷酸探针(SSOP)杂交对I类HLA - A、B、C基因进行高分辨率和中分辨率DNA分型系统。
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Genotyping with DNA probes in combined immunodeficiency syndrome with defective expression of HLA.在伴有HLA表达缺陷的联合免疫缺陷综合征中使用DNA探针进行基因分型。
N Engl J Med. 1985 Oct 31;313(18):1161. doi: 10.1056/nejm198510313131815.
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J Clin Immunol. 1997 Mar;17(2):109-26. doi: 10.1023/a:1027322314256.
3
Phenotypical and functional analysis of B lymphocytes of two siblings with combined immunodeficiency and defective expression of major histocompatibility complex (MHC) class II antigens on mononuclear cells.
J Clin Immunol. 1987 Mar;7(2):98-106. doi: 10.1007/BF00916003.
4
First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis to HLA-DNA probes and by 17-hydroxyprogesterone determination.通过与HLA - DNA探针的连锁分析及17 - 羟孕酮测定对孕早期21 - 羟化酶缺乏症进行产前诊断。
Hum Genet. 1986 Aug;73(4):358-64. doi: 10.1007/BF00279101.
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DNA polymorphism and the study of disease associations.DNA多态性与疾病关联研究
Hum Genet. 1988 Apr;78(4):299-312. doi: 10.1007/BF00291724.
6
Use of nonisotopic M13 probes for genetic analysis: application to HLA class II loci.非同位素M13探针在基因分析中的应用:应用于HLA II类基因座
Proc Natl Acad Sci U S A. 1986 Dec;83(23):9085-9. doi: 10.1073/pnas.83.23.9085.
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DNA typing of HLA-DR antigens in systemic lupus erythematosus.
Immunogenetics. 1986;24(3):158-62. doi: 10.1007/BF00364743.
8
Activation of genetically major histocompatibility complex (MHC) class II-deficient B lymphocytes.基因性主要组织相容性复合体(MHC)II类缺陷B淋巴细胞的激活。
J Clin Immunol. 1989 Mar;9(2):125-31. doi: 10.1007/BF00916940.
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HLA gene amplification and hybridization analysis of polymorphism. HLA matching for bone marrow transplantation of a patient with HLA-deficient severe combined immunodeficiency syndrome.HLA基因多态性的扩增及杂交分析。一名患有HLA缺陷型重症联合免疫缺陷综合征患者骨髓移植的HLA配型。
J Clin Invest. 1989 Aug;84(2):613-8. doi: 10.1172/JCI114206.
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Molecular basis of human leukocyte antigen class II disease associations.人类白细胞抗原II类疾病关联的分子基础。
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