Czaja A J, Santrach P J, Moore S B
Division of Gastroenterology and Internal Medicine, Mayo Clinic Rochester, MN 55905, USA.
Mayo Clin Proc. 1995 Dec;70(12):1154-60. doi: 10.4065/70.12.1154.
To determine whether, in patients with type 1 autoimmune hepatitis and human leukocyte antigen (HLA) DR3 and DR4 positivity, any DQ antigen is disease-specific.
HLA class II typing was performed by restriction fragment length polymorphism in 103 patients with type 1 autoimmune hepatitis, 104 patients with chronic viral hepatitis, and 80 normal subjects. A shared association with a disease-specific DQ antigen was sought in patients with HLA-DR3, DR4, and DR3-DR4.
Patients with HLA-DR3 and DR4 shared positivity for DQ2, DQ4, DQ5, DQ6, and DQ7, but the associations reflected established linkages or were of low frequency. Patients heterozygous for DR3-DR4 or homozygous for either DR3 or DR4 did not have a shared DQ antigen. Only the DR3-DQ2 haplotype distinguished patients with autoimmune hepatitis from normal subjects or those with chronic viral hepatitis.
The DR3 and DR4 antigens are not associated with a single disease-specific DQ antigen in type 1 autoimmune hepatitis. The DR3-DQ2 haplotype is the principal risk factor for the disease at our referral center. Analyses by restriction fragment length polymorphism do not implicate a single susceptibility gene at the DQ locus.
确定在1型自身免疫性肝炎且人类白细胞抗原（HLA）DR3和DR4呈阳性的患者中，是否存在任何疾病特异性的DQ抗原。
采用限制性片段长度多态性方法对103例1型自身免疫性肝炎患者、104例慢性病毒性肝炎患者和80名正常受试者进行HLA II类分型。在HLA-DR3、DR4和DR3-DR4阳性的患者中寻找与疾病特异性DQ抗原的共同关联。
HLA-DR3和DR4阳性患者中DQ2、DQ4、DQ5、DQ6和DQ7呈共同阳性，但这些关联反映的是已确定的连锁关系或频率较低。DR3-DR4杂合子或DR3或DR4纯合子患者没有共同的DQ抗原。只有DR3-DQ2单倍型能将自身免疫性肝炎患者与正常受试者或慢性病毒性肝炎患者区分开来。
在1型自身免疫性肝炎中，DR3和DR4抗原与单一疾病特异性DQ抗原无关。在我们的转诊中心，DR3-DQ2单倍型是该疾病的主要危险因素。限制性片段长度多态性分析未表明DQ位点存在单一的易感基因。
