16个着色性干皮病家族中的人类白细胞抗原

HLA antigens in 16 families with xeroderma pigmentosum.

作者信息

Giraldo G, Degos L, Beth E, Gharbi R M, Day N K, Dastot H, Haus M, Reboul M, Schmid M

出版信息

Tissue Antigens. 1977 Mar;9(3):167-70. doi: 10.1111/j.1399-0039.1977.tb01099.x.

DOI:10.1111/j.1399-0039.1977.tb01099.x

Abstract

Xeroderma pigmentosum is an autosomal recessive disease. HLA-A and -B typing was performed on peripheral blood lymphocytes and platelets. Sixteen Tunisian families were typed with 37 patients and 108 relatives. Genetic transmission of the disease and of the HLA system seemed to be independent in this study. Comparison of HLA gene frequencies between (unrelated) parents of patients and a control population showed no difference, proving that there is no clear association in populations between deleterious XP genes and a particular HLA gene. However, an excess of identical HLA among pairs of diseased siblings would suggest that the disease is polymorphic and a form of the XP could be linked to HLA.

摘要

着色性干皮病是一种常染色体隐性疾病。对外周血淋巴细胞和血小板进行了HLA - A和 - B分型。对16个突尼斯家庭进行了分型，其中有37名患者和108名亲属。在本研究中，该疾病和HLA系统的遗传传递似乎是独立的。对患者（无血缘关系的）父母与对照人群之间的HLA基因频率进行比较，未发现差异，这证明在人群中有害的着色性干皮病基因与特定的HLA基因之间没有明确的关联。然而，患病同胞对之间相同HLA的比例过高，这表明该疾病具有多态性，并且着色性干皮病的一种形式可能与HLA相关。