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[人类白细胞抗原标记与周期性疾病[家族性地中海热(F.M.F.)](作者译)]

[HLA markers and periodic disease [familial Mediterranean fever (F.M.F.)] (author's transl)].

作者信息

Chaouat Y, Tormen J P, Godeau P, Camus J P, Kahn M F, Ryckewaert A, Laula J E, Menkes C J, Schmid M, Hors J

出版信息

Nouv Presse Med. 1977 Oct 8;6(33):2949-53.

PMID:593830
Abstract

Thirty-one unrelated patients, 15-52 years old, were typed by microlymphocytotoxicity for 27 alleles of the HLA system. In addition, 12 families including 1 or more patient were also analysed. This criteria for diagnosis were those of Sohar et all. (Am. Intern. Med., 1967, 43, 227-253). All patients were of Israelite-Sephardin origin except two (Armenian and French); they were from North-Africa (Tunisia, Morocco and Algeria) and Israël. The results were compared to the antigen frequencies of 3 reference normal populations. The frequencies of the studied alleles do not differ from those of controls, except for HL-A28 and B14 slightly increased when compared to the normal frequencies. The study of 7 families with at least two sibs suffering from FMF shows a random distribution of the genotypes : 2 HLA identical, 6 different and 10 haploidentical diseased sibs. This distribution differs significantly (p less than 0.01) from that expected in the case of a recessive inheritance. These data do not support the hypothesis of a linkage between genes controlling FMF and HLA genes.

摘要

31名年龄在15至52岁之间的非亲属患者通过微量淋巴细胞毒性试验对HLA系统的27个等位基因进行了分型。此外,还对12个包含1名或多名患者的家庭进行了分析。诊断标准采用索哈尔等人(《美国内科医学杂志》,1967年,第43卷,第227 - 253页)的标准。除两名患者(亚美尼亚人和法国人)外,所有患者均为以色列-西班牙裔起源;他们来自北非(突尼斯、摩洛哥和阿尔及利亚)以及以色列。将结果与3个正常对照人群的抗原频率进行了比较。所研究等位基因的频率与对照组无差异,只是与正常频率相比,HL - A28和B14略有增加。对7个至少有两名患家族性地中海热(FMF)同胞的家庭进行研究发现,基因型呈随机分布:2对HLA相同,6对不同,10对单倍型相同的患病同胞。这种分布与隐性遗传情况下预期的分布有显著差异(p小于0.01)。这些数据不支持控制FMF的基因与HLA基因之间存在连锁的假设。

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