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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.

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。

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