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一个冰岛家族中的风湿性疾病。临床与免疫学调查。

Rheumatic diseases in an Icelandic family. Clinical and immunological survey.

作者信息

Teitsson I, Thorsteinsson J, Arnason A, Valdimarsson H

出版信息

Scand J Rheumatol. 1985;14(2):109-18. doi: 10.3109/03009748509165492.

Abstract

We have studied 192 members of a highly inbred Icelandic family with clustering of rheumatic diseases. Twelve consanguineous marriages are known in the family and 54 of 65 surviving offsprings of these (inbred group) were traced. Thirty-nine family members were affected by rheumatic diseases; 18 of them belonged to the inbred group. Eleven of 20 family members with rheumatoid arthritis (RA) came from the same inbred group. Eleven of the inbred group had a positive Rose-Waaler test for rheumatoid factor (RF) and the inbred group had significantly higher serum levels of IgG and IgM than an age and sex matched group from the family. Serum IgM RF was significantly associated with the age of the family members, but IgA RF and IgG RF did not show any such association. The possible role of recessive genes in the rheumatic diseases, as well as the inbreeding effect regarding certain extended HLA-complotypes is discussed.

摘要

我们研究了一个患有风湿性疾病聚集的高度近亲繁殖的冰岛家族的192名成员。该家族中有12对近亲婚姻,追踪了这些近亲婚姻中65名存活后代中的54名(近亲组)。39名家庭成员患有风湿性疾病;其中18名属于近亲组。20名类风湿关节炎(RA)患者中有11名来自同一近亲组。近亲组中有11人类风湿因子(RF)的罗斯-瓦勒试验呈阳性,且近亲组的血清IgG和IgM水平显著高于该家族中年龄和性别匹配的组。血清IgM RF与家庭成员的年龄显著相关,但IgA RF和IgG RF未显示出任何此类关联。讨论了隐性基因在风湿性疾病中的可能作用,以及关于某些扩展的HLA单倍型的近亲繁殖效应。

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