Molecular Genetics of the HLA System: New Tools for the Study of HLA and Disease

Clinics in Immunology and Allergy Pub Date : 1984-10-01 DOI:10.1016/S0260-4639(22)00200-6

J. DAUSSET, D. COHEN

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引用次数: 1

Abstract

Molecular biology provides new tools for the study of HLA associated or linked diseases. Restriction enzymes digest the DNA at specific sequences allowing the detection of fragments of various lengths. Using several enzymes and probes for Class I, Class IIα and Class IIβ, an extensive new polymorphism was defined. Some of these fragments correlated with known HLA-A, -B and -DR specificities.

These fragments constitute new markers for susceptibility or resistance genes of HLA associated diseases. In insulin-dependent diabetes mellitus (IDDM) a fragment βDC, EcoRI 2.2 kb, was found to be absent in the rare DR2 patients. Thus, this band seemed to mark the DR2 diabetes resistant haplotype. Likewise, a βDC PvuII 4.0 kb fragment was decreased in DR3 patients. In multiple sclerosis (MS), a βDC BamHI 12 kb fragment was found to have an increased frequency. Moreover, a βDC EcoRV 23 kb fragment was present in all DR7 patients but present in only half of the DR7 controls.

HLA genotyping can be performed using DNA fragments when the genes are not expressed on the cell surface.

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HLA系统的分子遗传学：HLA与疾病研究的新工具

分子生物学为HLA相关或连锁疾病的研究提供了新的工具。限制性内切酶以特定的序列消化DNA，从而能够检测各种长度的片段。使用I类、II类α和II类β的几种酶和探针，定义了一种广泛的新多态性。其中一些片段与已知的HLA-A、-B和-DR特异性相关。这些片段构成HLA相关疾病易感性或抗性基因的新标记。在胰岛素依赖型糖尿病（IDDM）中，发现一个片段βDC，EcoRI 2.2kb，在罕见的DR2患者中不存在。因此，这条带似乎标志着DR2糖尿病抗性单倍型。同样，DR3患者的βDC PvuII 4.0kb片段减少。在多发性硬化症（MS）中，发现βDC-BamHI 12kb片段的频率增加。此外，βDC-EcoRV 23kb片段存在于所有DR7患者中，但仅存在于DR7对照组的一半中。当基因未在细胞表面表达时，可以使用DNA片段进行HLA基因分型。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Clinics in Immunology and Allergy

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