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发作性睡病中的人类白细胞抗原-DR限制片段长度多态性

HLA-DR restriction-fragment-length polymorphisms in narcolepsy.

作者信息

Holloman J D, Bell J I, Kilduff T S, Dement W C, Guilleminault C, McDevitt H O

机构信息

Department of Medical Microbiology, Stanford University School of Medicine, California.

出版信息

J Neurosci Res. 1987;18(1):239-44. doi: 10.1002/jnr.490180134.

Abstract

Seventeen white patients from the Stanford Sleep Disorders Clinic complaining of excessive daytime somnolence (EDS) were selected for restriction-fragment-length polymorphism (RFLP) studies. Fourteen of the patients with clinically diagnosed narcolepsy were seropositive for DR2. RFLP analysis of these patients compared with a homozygous DR2-Dw2 cell line failed to reveal any polymorphism when digested with six restriction endonucleases and hybridized with three different cDNA probes. None of the three patients with central nervous system hypersomnia, a syndrome similar to narcolepsy, were DR2-positive. We conclude that any polymorphism of the DR beta, DQ alpha, or DQ beta genes of DR2 narcoleptics that might distinguish them from DR2 normals cannot be resolved through RFLP analysis.

摘要

从斯坦福睡眠障碍诊所选取了17名主诉白天过度嗜睡(EDS)的白人患者进行限制性片段长度多态性(RFLP)研究。14例临床诊断为发作性睡病的患者DR2血清学呈阳性。与纯合DR2 - Dw2细胞系相比,对这些患者进行RFLP分析,在用六种限制性内切酶消化并与三种不同的cDNA探针杂交时,未发现任何多态性。三名患有中枢神经系统性失眠(一种与发作性睡病相似的综合征)的患者均未出现DR2阳性。我们得出结论,通过RFLP分析无法分辨出可能使发作性睡病患者与正常DR2个体区分开来的DR2发作性睡病患者的DRβ、DQα或DQβ基因的任何多态性。

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