原发性胆汁性肝硬化患者及健康丹麦人肿瘤坏死因子（TNFα）区域的NcoI限制性片段长度多态性（RFLP）

NcoI restriction fragment length polymorphism (RFLP) of the tumour necrosis factor (TNF alpha) region in primary biliary cirrhosis and in healthy Danes.

作者信息

Fugger L, Morling N, Ryder L P, Platz P, Georgsen J, Jakobsen B K, Svejgaard A, Dalhoff K, Ranek L

机构信息

Department of Clinical Immunology, State University Hospital, Copenhagen, Denmark.

出版信息

Scand J Immunol. 1989 Aug;30(2):185-9. doi: 10.1111/j.1365-3083.1989.tb01200.x.

DOI:10.1111/j.1365-3083.1989.tb01200.x

PMID:2569760

Abstract

The restriction fragment length polymorphism of the human tumour necrosis factor (TNF alpha) region was investigated by means of 20 different restriction enzymes and a human TNF alpha cDNA probe. Only one of the enzymes, NcoI, revealed a polymorphic pattern consisting of fragments of 10.5 and 5.5 kb, which behaved as alleles. In a panel of 108 random, healthy, unrelated Danes, the phenotype frequencies of the 10.5 and 5.5 kb bands were 0.94 and 0.53 and the gene frequencies were 0.71 and 0.29, respectively. The test for Hardy-Weinberg equilibrium showed no significant deviation from the expected values. The 5.5 kb band was strongly positively associated with HLA-DR3, HLA-B8, and HLA-A1. In 22 patients with primary biliary cirrhosis a significantly (corrected P = 0.024) decreased frequency of the 10.5 kb fragment was found. Additional studies are in progress to substantiate this association.

摘要

利用20种不同的限制性内切酶和人肿瘤坏死因子（TNFα）cDNA探针，研究了人类肿瘤坏死因子（TNFα）区域的限制性片段长度多态性。只有一种酶NcoI显示出由10.5 kb和5.5 kb片段组成的多态性模式，它们表现为等位基因。在一组108名随机、健康、无亲缘关系的丹麦人中，10.5 kb和5.5 kb条带的表型频率分别为0.94和0.53，基因频率分别为0.71和0.29。哈迪-温伯格平衡检验显示与预期值无显著偏差。5.5 kb条带与HLA-DR3、HLA-B8和HLA-A1呈强正相关。在22例原发性胆汁性肝硬化患者中，发现10.5 kb片段的频率显著降低（校正P = 0.024）。正在进行进一步的研究以证实这种关联。