HLA and narcolepsy in a German population.
HLA and narcolepsy in a German population.
复制标题
德国人群中的 HLA 和发作性睡病。
DOI：
10.1111/j.1399-0039.1986.tb00476.x
复制
发表时间：
2008
期刊：
影响因子：
--
通讯作者：
C. Mueller
中科院分区：
文献类型：
--
作者：
Gertrud Mueller;K. Meier;Dolores J. Schendel;F. B. Reinecker;Gabriele Multhoff;C. Mueller
本文首次报道了德国发作性睡病患者的主要组织相容性复合体（MHC）基因（包括HLA-A、B、C、DR、DQ）和补体BF、C4 A、C4 B决定簇，并结合欧洲白种人的首次家系研究进行了分析。58例无血缘关系的患者中57例（98.3%）DR 2和DQw 1阳性。与所有其他报告相反，发现一例具有典型发作性睡病体征的患者为DR 2/DQw 1阴性。数据显示B7的频率显著增加，B35的正常频率与日本患者的数据不一致。对6个家系的DR 2连锁单倍型进行了分析，结果表明，12个家系中有5个为DQw 1、DR 2、BFS、C4 B1、C4 A3、B7（Cw 7），11/12个家系中有DR 2、DQw 1、BFS、C4 A3、C4 B1的连锁单倍型。在一个多病例家族中，在受影响的兄弟姐妹中发现了两种基因型不同的DR 2单倍型。从家庭研究的结果是一致的显性遗传方式与不完全的假设疾病易感基因的遗传。
In this paper the first MHC data including HLA-A, B, C, DR, DQ and complement BF, C4A, C4B determinants in German narcoleptics are presented together with the first family studies in European Caucasoids. 57 out of 58 unrelated patients (98.3%) were positive for DR2 and DQw1, respectively. In contrast to all other reports, one patient with typical signs of narcolepsy was found to be DR2/DQw1 negative. Data showing significant increase in the frequency of B7, and normal frequencies of B35 were discordant with data from Japanese patients. Definition of the extended DR2 linked haplotypes, deduced from 6 families, revealed that 5 out of 12 were DQw1, DR2, BFS, C4B1, C4A3, B7 (Cw7), while 11/12 had DR2, DQw1, BFS, C4A3, C4B1 in common. In one multiple case family two genotypically different DR2 haplotypes were identified in affected siblings. Results from the family study were concordant with a dominant mode of inheritance with incomplete penetrance of a hypothetical disease susceptibility gene.
易患嗜睡病的 HLA 连锁基因的遗传模式。
影响因子：
--
作者：
Thomson,G
通讯作者：
Thomson,G